Mutations of PTPN23 in developmental and epileptic encephalopathy View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2017-11

AUTHORS

Nadine Sowada, Mais Omar Hashem, Rüstem Yilmaz, Muddathir Hamad, Naseebullah Kakar, Holger Thiele, Stefan T. Arold, Harald Bode, Fowzan S. Alkuraya, Guntram Borck

ABSTRACT

Developmental and epileptic encephalopathies (DEE) are a heterogeneous group of neurodevelopmental disorders with poor prognosis. Recent discoveries have greatly expanded the repertoire of genes that are mutated in epileptic encephalopathies and DEE, often in a de novo fashion, but in many patients, the disease remains molecularly uncharacterized. Here, we describe a new form of DEE in patients with likely deleterious biallelic variants in PTPN23. The phenotype is characterized by early onset drug-resistant epilepsy, severe and global developmental delay, microcephaly, and sometimes premature death. PTPN23 encodes a tyrosine phosphatase with strong brain expression, and its knockout in mouse is embryonically lethal. Structural modeling supports a deleterious effect of the identified alleles. Our data suggest that PTPN23 mutations cause a rare severe form of autosomal-recessive DEE in humans, a finding that requires confirmation. More... »

PAGES

1455-1461

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00439-017-1850-3

DOI

http://dx.doi.org/10.1007/s00439-017-1850-3

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1092459561

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29090338


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1109", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Neurosciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adult", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Developmental Disabilities", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Infant, Newborn", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Phenotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Protein Conformation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Protein Tyrosine Phosphatases, Non-Receptor", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Spasms, Infantile", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University of Ulm", 
          "id": "https://www.grid.ac/institutes/grid.6582.9", 
          "name": [
            "Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sowada", 
        "givenName": "Nadine", 
        "id": "sg:person.0654354504.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0654354504.22"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "King Faisal Specialist Hospital & Research Centre", 
          "id": "https://www.grid.ac/institutes/grid.415310.2", 
          "name": [
            "Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hashem", 
        "givenName": "Mais Omar", 
        "id": "sg:person.01107751767.12", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01107751767.12"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Ulm", 
          "id": "https://www.grid.ac/institutes/grid.6582.9", 
          "name": [
            "Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Yilmaz", 
        "givenName": "R\u00fcstem", 
        "id": "sg:person.0726165167.43", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0726165167.43"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "King Khalid University Hospital", 
          "id": "https://www.grid.ac/institutes/grid.459455.c", 
          "name": [
            "Department of Pediatrics, King Khalid University Hospital, Riyadh, Saudi Arabia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hamad", 
        "givenName": "Muddathir", 
        "id": "sg:person.0741605463.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0741605463.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Balochistan University of Information Technology, Engineering and Management Sciences", 
          "id": "https://www.grid.ac/institutes/grid.440526.1", 
          "name": [
            "Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany", 
            "Department of Biotechnology, BUITEMS, Quetta, Pakistan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kakar", 
        "givenName": "Naseebullah", 
        "id": "sg:person.01221114267.10", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01221114267.10"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Cologne", 
          "id": "https://www.grid.ac/institutes/grid.6190.e", 
          "name": [
            "Cologne Center for Genomics, University of Cologne, Cologne, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Thiele", 
        "givenName": "Holger", 
        "id": "sg:person.0643541135.97", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0643541135.97"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "King Abdullah University of Science and Technology", 
          "id": "https://www.grid.ac/institutes/grid.45672.32", 
          "name": [
            "Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Arold", 
        "givenName": "Stefan T.", 
        "id": "sg:person.0706310437.21", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0706310437.21"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Ulm", 
          "id": "https://www.grid.ac/institutes/grid.6582.9", 
          "name": [
            "Division of Pediatric Neurology, Children\u2019s Hospital, University of Ulm, Ulm, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bode", 
        "givenName": "Harald", 
        "id": "sg:person.01303745447.03", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01303745447.03"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "King Abdulaziz City for Science and Technology", 
          "id": "https://www.grid.ac/institutes/grid.452562.2", 
          "name": [
            "Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia", 
            "Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Alkuraya", 
        "givenName": "Fowzan S.", 
        "id": "sg:person.01241127342.18", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01241127342.18"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Ulm", 
          "id": "https://www.grid.ac/institutes/grid.6582.9", 
          "name": [
            "Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Borck", 
        "givenName": "Guntram", 
        "id": "sg:person.01153001067.95", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01153001067.95"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1016/j.ejmg.2012.04.002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003222756"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.celrep.2014.12.015", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008543716"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1091/mbc.e14-06-1151", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009632745"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0005105", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011056269"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ejhg.2016.146", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013046396", 
          "https://doi.org/10.1038/ejhg.2016.146"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature08895", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016398543", 
          "https://doi.org/10.1038/nature08895"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature08895", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016398543", 
          "https://doi.org/10.1038/nature08895"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.21476", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017568081"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/0883073815599262", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020081203"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/0883073815599262", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020081203"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.celrep.2016.04.076", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020176646"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.0707601105", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022517686"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gkw1099", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022885794"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.str.2016.10.006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029479482"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/bioinformatics/bti770", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031081661"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cub.2011.06.028", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036918429"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1242/dev.017202", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038380332"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1474-4422(15)00250-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044845165"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gr.199430.115", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047024794"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1387/ijdb.082820mg", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1067191063"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/epi.13709", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1084212381"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/0883073817697846", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1084244318"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/0883073817697846", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1084244318"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2017-11", 
    "datePublishedReg": "2017-11-01", 
    "description": "Developmental and epileptic encephalopathies (DEE) are a heterogeneous group of neurodevelopmental disorders with poor prognosis. Recent discoveries have greatly expanded the repertoire of genes that are mutated in epileptic encephalopathies and DEE, often in a de novo fashion, but in many patients, the disease remains molecularly uncharacterized. Here, we describe a new form of DEE in patients with likely deleterious biallelic variants in PTPN23. The phenotype is characterized by early onset drug-resistant epilepsy, severe and global developmental delay, microcephaly, and sometimes premature death. PTPN23 encodes a tyrosine phosphatase with strong brain expression, and its knockout in mouse is embryonically lethal. Structural modeling supports a deleterious effect of the identified alleles. Our data suggest that PTPN23 mutations cause a rare severe form of autosomal-recessive DEE in humans, a finding that requires confirmation.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s00439-017-1850-3", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1085982", 
        "issn": [
          "0340-6717", 
          "1432-1203"
        ], 
        "name": "Human Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "11-12", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "136"
      }
    ], 
    "name": "Mutations of PTPN23 in developmental and epileptic encephalopathy", 
    "pagination": "1455-1461", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "61fee54f08d12494eb2d8ca7d93fe91e249618424c31dffa64b3dee6b35c2a59"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "29090338"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "7613873"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s00439-017-1850-3"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1092459561"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s00439-017-1850-3", 
      "https://app.dimensions.ai/details/publication/pub.1092459561"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T13:58", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000371_0000000371/records_130820_00000005.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1007%2Fs00439-017-1850-3"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s00439-017-1850-3'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s00439-017-1850-3'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00439-017-1850-3'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00439-017-1850-3'


 

This table displays all metadata directly associated to this object as RDF triples.

259 TRIPLES      21 PREDICATES      60 URIs      32 LITERALS      20 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s00439-017-1850-3 schema:about N2a64476e603a402b874f33edd3deb3f9
2 N461566c0d3bf41d598efece70801e663
3 N57f8192fae10448d9d2e3a63566c11ce
4 N958d4449388c440cb4e580be4dab0b98
5 Na032f7028f6e45d5a2e481439cb82d70
6 Na711ca28338f4ce791fbecc151821595
7 Nda32918026a546b2ab5cf5869d3c1733
8 Ne038cd14eaac4f309ecf3af47f805aeb
9 Nea2254a0293c4d5e8956a11bff24935d
10 Nf6b677e0be71489797fdaab07a61e451
11 Nf81ae6fc8adb456f9b8577d7f20eb466
12 anzsrc-for:11
13 anzsrc-for:1109
14 schema:author N1e9ab59bcb52484ea77ba2c1a7686d5a
15 schema:citation sg:pub.10.1038/ejhg.2016.146
16 sg:pub.10.1038/nature08895
17 https://doi.org/10.1002/humu.21476
18 https://doi.org/10.1016/j.celrep.2014.12.015
19 https://doi.org/10.1016/j.celrep.2016.04.076
20 https://doi.org/10.1016/j.cub.2011.06.028
21 https://doi.org/10.1016/j.ejmg.2012.04.002
22 https://doi.org/10.1016/j.str.2016.10.006
23 https://doi.org/10.1016/s1474-4422(15)00250-1
24 https://doi.org/10.1073/pnas.0707601105
25 https://doi.org/10.1091/mbc.e14-06-1151
26 https://doi.org/10.1093/bioinformatics/bti770
27 https://doi.org/10.1093/nar/gkw1099
28 https://doi.org/10.1101/gr.199430.115
29 https://doi.org/10.1111/epi.13709
30 https://doi.org/10.1177/0883073815599262
31 https://doi.org/10.1177/0883073817697846
32 https://doi.org/10.1242/dev.017202
33 https://doi.org/10.1371/journal.pone.0005105
34 https://doi.org/10.1387/ijdb.082820mg
35 schema:datePublished 2017-11
36 schema:datePublishedReg 2017-11-01
37 schema:description Developmental and epileptic encephalopathies (DEE) are a heterogeneous group of neurodevelopmental disorders with poor prognosis. Recent discoveries have greatly expanded the repertoire of genes that are mutated in epileptic encephalopathies and DEE, often in a de novo fashion, but in many patients, the disease remains molecularly uncharacterized. Here, we describe a new form of DEE in patients with likely deleterious biallelic variants in PTPN23. The phenotype is characterized by early onset drug-resistant epilepsy, severe and global developmental delay, microcephaly, and sometimes premature death. PTPN23 encodes a tyrosine phosphatase with strong brain expression, and its knockout in mouse is embryonically lethal. Structural modeling supports a deleterious effect of the identified alleles. Our data suggest that PTPN23 mutations cause a rare severe form of autosomal-recessive DEE in humans, a finding that requires confirmation.
38 schema:genre research_article
39 schema:inLanguage en
40 schema:isAccessibleForFree false
41 schema:isPartOf N270cb81c519243ee8372fa89072c9f07
42 Nfe1ce4c3dbca4f09bb3317dbf1940e49
43 sg:journal.1085982
44 schema:name Mutations of PTPN23 in developmental and epileptic encephalopathy
45 schema:pagination 1455-1461
46 schema:productId N0e761a02717a4e68940d81d467184c60
47 N1baf45feddbb4468acd07a9bc1f6b3b7
48 N385301c54edf45e4bfb9e6881931ddbd
49 N4d9040099c984f17b42c8003ddc92314
50 Nedaf917c463c4e17aecbd0c872c71f9e
51 schema:sameAs https://app.dimensions.ai/details/publication/pub.1092459561
52 https://doi.org/10.1007/s00439-017-1850-3
53 schema:sdDatePublished 2019-04-11T13:58
54 schema:sdLicense https://scigraph.springernature.com/explorer/license/
55 schema:sdPublisher N684e8e8ad4ec498895c3deaaa1b7bb98
56 schema:url https://link.springer.com/10.1007%2Fs00439-017-1850-3
57 sgo:license sg:explorer/license/
58 sgo:sdDataset articles
59 rdf:type schema:ScholarlyArticle
60 N0e761a02717a4e68940d81d467184c60 schema:name dimensions_id
61 schema:value pub.1092459561
62 rdf:type schema:PropertyValue
63 N18d210c4592d4f7f973f63cee1ab8b92 rdf:first sg:person.01303745447.03
64 rdf:rest N581c8318ddc0440db106878908fde8da
65 N1baf45feddbb4468acd07a9bc1f6b3b7 schema:name doi
66 schema:value 10.1007/s00439-017-1850-3
67 rdf:type schema:PropertyValue
68 N1cfd18db707f45f8a8add8ca3aa6010c rdf:first sg:person.0741605463.31
69 rdf:rest Nf83a39a858da4adebf3f10009288a845
70 N1e9ab59bcb52484ea77ba2c1a7686d5a rdf:first sg:person.0654354504.22
71 rdf:rest N6145044e9e8e42f0ad0f6f7ec5f98ed4
72 N270cb81c519243ee8372fa89072c9f07 schema:volumeNumber 136
73 rdf:type schema:PublicationVolume
74 N2a64476e603a402b874f33edd3deb3f9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
75 schema:name Protein Tyrosine Phosphatases, Non-Receptor
76 rdf:type schema:DefinedTerm
77 N385301c54edf45e4bfb9e6881931ddbd schema:name nlm_unique_id
78 schema:value 7613873
79 rdf:type schema:PropertyValue
80 N3ce70054ed214bdca7ae3220f0127a14 rdf:first sg:person.0643541135.97
81 rdf:rest N70529556999e43ddabfd4cc374d15767
82 N461566c0d3bf41d598efece70801e663 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
83 schema:name Adult
84 rdf:type schema:DefinedTerm
85 N4d9040099c984f17b42c8003ddc92314 schema:name readcube_id
86 schema:value 61fee54f08d12494eb2d8ca7d93fe91e249618424c31dffa64b3dee6b35c2a59
87 rdf:type schema:PropertyValue
88 N57f8192fae10448d9d2e3a63566c11ce schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
89 schema:name Male
90 rdf:type schema:DefinedTerm
91 N581c8318ddc0440db106878908fde8da rdf:first sg:person.01241127342.18
92 rdf:rest Nd02616add37b463f95299a5fafdb5b88
93 N6145044e9e8e42f0ad0f6f7ec5f98ed4 rdf:first sg:person.01107751767.12
94 rdf:rest N9aca6068258047249886ad8bce08f87f
95 N684e8e8ad4ec498895c3deaaa1b7bb98 schema:name Springer Nature - SN SciGraph project
96 rdf:type schema:Organization
97 N70529556999e43ddabfd4cc374d15767 rdf:first sg:person.0706310437.21
98 rdf:rest N18d210c4592d4f7f973f63cee1ab8b92
99 N958d4449388c440cb4e580be4dab0b98 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
100 schema:name Female
101 rdf:type schema:DefinedTerm
102 N9aca6068258047249886ad8bce08f87f rdf:first sg:person.0726165167.43
103 rdf:rest N1cfd18db707f45f8a8add8ca3aa6010c
104 Na032f7028f6e45d5a2e481439cb82d70 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
105 schema:name Mutation
106 rdf:type schema:DefinedTerm
107 Na711ca28338f4ce791fbecc151821595 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
108 schema:name Developmental Disabilities
109 rdf:type schema:DefinedTerm
110 Nd02616add37b463f95299a5fafdb5b88 rdf:first sg:person.01153001067.95
111 rdf:rest rdf:nil
112 Nda32918026a546b2ab5cf5869d3c1733 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
113 schema:name Phenotype
114 rdf:type schema:DefinedTerm
115 Ne038cd14eaac4f309ecf3af47f805aeb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
116 schema:name Protein Conformation
117 rdf:type schema:DefinedTerm
118 Nea2254a0293c4d5e8956a11bff24935d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
119 schema:name Humans
120 rdf:type schema:DefinedTerm
121 Nedaf917c463c4e17aecbd0c872c71f9e schema:name pubmed_id
122 schema:value 29090338
123 rdf:type schema:PropertyValue
124 Nf6b677e0be71489797fdaab07a61e451 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
125 schema:name Infant, Newborn
126 rdf:type schema:DefinedTerm
127 Nf81ae6fc8adb456f9b8577d7f20eb466 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
128 schema:name Spasms, Infantile
129 rdf:type schema:DefinedTerm
130 Nf83a39a858da4adebf3f10009288a845 rdf:first sg:person.01221114267.10
131 rdf:rest N3ce70054ed214bdca7ae3220f0127a14
132 Nfe1ce4c3dbca4f09bb3317dbf1940e49 schema:issueNumber 11-12
133 rdf:type schema:PublicationIssue
134 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
135 schema:name Medical and Health Sciences
136 rdf:type schema:DefinedTerm
137 anzsrc-for:1109 schema:inDefinedTermSet anzsrc-for:
138 schema:name Neurosciences
139 rdf:type schema:DefinedTerm
140 sg:journal.1085982 schema:issn 0340-6717
141 1432-1203
142 schema:name Human Genetics
143 rdf:type schema:Periodical
144 sg:person.01107751767.12 schema:affiliation https://www.grid.ac/institutes/grid.415310.2
145 schema:familyName Hashem
146 schema:givenName Mais Omar
147 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01107751767.12
148 rdf:type schema:Person
149 sg:person.01153001067.95 schema:affiliation https://www.grid.ac/institutes/grid.6582.9
150 schema:familyName Borck
151 schema:givenName Guntram
152 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01153001067.95
153 rdf:type schema:Person
154 sg:person.01221114267.10 schema:affiliation https://www.grid.ac/institutes/grid.440526.1
155 schema:familyName Kakar
156 schema:givenName Naseebullah
157 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01221114267.10
158 rdf:type schema:Person
159 sg:person.01241127342.18 schema:affiliation https://www.grid.ac/institutes/grid.452562.2
160 schema:familyName Alkuraya
161 schema:givenName Fowzan S.
162 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01241127342.18
163 rdf:type schema:Person
164 sg:person.01303745447.03 schema:affiliation https://www.grid.ac/institutes/grid.6582.9
165 schema:familyName Bode
166 schema:givenName Harald
167 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01303745447.03
168 rdf:type schema:Person
169 sg:person.0643541135.97 schema:affiliation https://www.grid.ac/institutes/grid.6190.e
170 schema:familyName Thiele
171 schema:givenName Holger
172 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0643541135.97
173 rdf:type schema:Person
174 sg:person.0654354504.22 schema:affiliation https://www.grid.ac/institutes/grid.6582.9
175 schema:familyName Sowada
176 schema:givenName Nadine
177 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0654354504.22
178 rdf:type schema:Person
179 sg:person.0706310437.21 schema:affiliation https://www.grid.ac/institutes/grid.45672.32
180 schema:familyName Arold
181 schema:givenName Stefan T.
182 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0706310437.21
183 rdf:type schema:Person
184 sg:person.0726165167.43 schema:affiliation https://www.grid.ac/institutes/grid.6582.9
185 schema:familyName Yilmaz
186 schema:givenName Rüstem
187 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0726165167.43
188 rdf:type schema:Person
189 sg:person.0741605463.31 schema:affiliation https://www.grid.ac/institutes/grid.459455.c
190 schema:familyName Hamad
191 schema:givenName Muddathir
192 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0741605463.31
193 rdf:type schema:Person
194 sg:pub.10.1038/ejhg.2016.146 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013046396
195 https://doi.org/10.1038/ejhg.2016.146
196 rdf:type schema:CreativeWork
197 sg:pub.10.1038/nature08895 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016398543
198 https://doi.org/10.1038/nature08895
199 rdf:type schema:CreativeWork
200 https://doi.org/10.1002/humu.21476 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017568081
201 rdf:type schema:CreativeWork
202 https://doi.org/10.1016/j.celrep.2014.12.015 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008543716
203 rdf:type schema:CreativeWork
204 https://doi.org/10.1016/j.celrep.2016.04.076 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020176646
205 rdf:type schema:CreativeWork
206 https://doi.org/10.1016/j.cub.2011.06.028 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036918429
207 rdf:type schema:CreativeWork
208 https://doi.org/10.1016/j.ejmg.2012.04.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003222756
209 rdf:type schema:CreativeWork
210 https://doi.org/10.1016/j.str.2016.10.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029479482
211 rdf:type schema:CreativeWork
212 https://doi.org/10.1016/s1474-4422(15)00250-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044845165
213 rdf:type schema:CreativeWork
214 https://doi.org/10.1073/pnas.0707601105 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022517686
215 rdf:type schema:CreativeWork
216 https://doi.org/10.1091/mbc.e14-06-1151 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009632745
217 rdf:type schema:CreativeWork
218 https://doi.org/10.1093/bioinformatics/bti770 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031081661
219 rdf:type schema:CreativeWork
220 https://doi.org/10.1093/nar/gkw1099 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022885794
221 rdf:type schema:CreativeWork
222 https://doi.org/10.1101/gr.199430.115 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047024794
223 rdf:type schema:CreativeWork
224 https://doi.org/10.1111/epi.13709 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084212381
225 rdf:type schema:CreativeWork
226 https://doi.org/10.1177/0883073815599262 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020081203
227 rdf:type schema:CreativeWork
228 https://doi.org/10.1177/0883073817697846 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084244318
229 rdf:type schema:CreativeWork
230 https://doi.org/10.1242/dev.017202 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038380332
231 rdf:type schema:CreativeWork
232 https://doi.org/10.1371/journal.pone.0005105 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011056269
233 rdf:type schema:CreativeWork
234 https://doi.org/10.1387/ijdb.082820mg schema:sameAs https://app.dimensions.ai/details/publication/pub.1067191063
235 rdf:type schema:CreativeWork
236 https://www.grid.ac/institutes/grid.415310.2 schema:alternateName King Faisal Specialist Hospital & Research Centre
237 schema:name Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
238 rdf:type schema:Organization
239 https://www.grid.ac/institutes/grid.440526.1 schema:alternateName Balochistan University of Information Technology, Engineering and Management Sciences
240 schema:name Department of Biotechnology, BUITEMS, Quetta, Pakistan
241 Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany
242 rdf:type schema:Organization
243 https://www.grid.ac/institutes/grid.452562.2 schema:alternateName King Abdulaziz City for Science and Technology
244 schema:name Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
245 Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia
246 rdf:type schema:Organization
247 https://www.grid.ac/institutes/grid.45672.32 schema:alternateName King Abdullah University of Science and Technology
248 schema:name Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia
249 rdf:type schema:Organization
250 https://www.grid.ac/institutes/grid.459455.c schema:alternateName King Khalid University Hospital
251 schema:name Department of Pediatrics, King Khalid University Hospital, Riyadh, Saudi Arabia
252 rdf:type schema:Organization
253 https://www.grid.ac/institutes/grid.6190.e schema:alternateName University of Cologne
254 schema:name Cologne Center for Genomics, University of Cologne, Cologne, Germany
255 rdf:type schema:Organization
256 https://www.grid.ac/institutes/grid.6582.9 schema:alternateName University of Ulm
257 schema:name Division of Pediatric Neurology, Children’s Hospital, University of Ulm, Ulm, Germany
258 Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany
259 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...