Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects

Journal of Experimental Medicine

Volumn 213, Issue 8, 2016, Pages 1429-1440

  Simon, Amos J ^a,b   Lev, Atar ^a,b   Zhang, Yong ^d   Weiss, Batia ^a,b   Rylova, Anna ^a   Eyal, Eran ^a,b   Kol, Nitzan ^a,b   Barel, Ortal ^a,b   Cesarkas, Keren ^a,b   Soudack, Michalle ^a   Greenberg Kushnir, Noa ^d   Rhodes, Michele ^d   Wiest, David L ^d   Schiby, Ginette ^a,b   Barshack, Iris ^a   Katz, Shulamit ^a   Pras, Elon ^c   Poran, Hana ^c   Reznik Wolf, Haike ^c   Ribakovsky, Elena ^b   Simon, Carlos ^a   Hazou, Wadi ^b   Sidi, Yechezkel ^b   Lahad, Avishay ^a   Katzir, Hagar ^e   Sagie, Shira ^e   Aqeilan, Haifa A ^f   Glousker, Galina ^f   Amariglio, Ninette ^a,b,g   Tzfati, Yehuda ^f   Selig, Sara ^e   Rechavi, Gideon ^a,b   Somech, Raz ^a,b   more..

^a SHEBA MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^d FOX CHASE CANCER CENTER   (United States)

^e TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^f HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^g BAR ILAN UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

THALIDOMIDE; STN1 PROTEIN, HUMAN; TELOMERE BINDING PROTEIN;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; EMBRYO; EXUDATIVE RETINITIS; FEMALE; GASTROINTESTINAL HEMORRHAGE; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENOMICS; HUMAN; HUMAN CELL; MALE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; STN1 GENE; TELOMERE; WILD TYPE; YOUNG ADULT; ZEBRA FISH; ANIMAL; ATAXIA; BIOSYNTHESIS; BRAIN NEOPLASMS; CALCINOSIS; CENTRAL NERVOUS SYSTEM CYSTS; DISEASE MODEL; DRUG EFFECTS; GENE EXPRESSION REGULATION; GENETICS; LEUKOENCEPHALOPATHIES; METABOLISM; MUSCLE SPASTICITY; MUTATION; PATHOLOGY; RETINAL DISEASES; SEIZURES;

ANIMALS; ATAXIA; BRAIN NEOPLASMS; CALCINOSIS; CENTRAL NERVOUS SYSTEM CYSTS; DISEASE MODELS, ANIMAL; FEMALE; GENE EXPRESSION REGULATION; HUMANS; LEUKOENCEPHALOPATHIES; MALE; MUSCLE SPASTICITY; MUTATION; RETINAL DISEASES; SEIZURES; TELOMERE; TELOMERE-BINDING PROTEINS; THALIDOMIDE; ZEBRAFISH;

EID: 84982985706     PISSN: 00221007     EISSN: 15409538     Source Type: Journal    
DOI: 10.1084/jem.20151618     Document Type: Article

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