A POT1 mutation implicates defective telomere end fill-in and telomere truncations in coats plus

Genes and Development

Volumn 30, Issue 7, 2016, Pages 812-826

  Takai, Hiroyuki ^a   Jenkinson, Emma ^b   Kabir, Shaheen ^a   Babul Hirji, Riyana ^c   Najm Tehrani, Nasrin ^c   Chitayat, David A ^c,d   Crow, Yanick J ^b,e   de Lange, Titia ^a  

^a ROCKEFELLER UNIVERSITY   (United States)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d MOUNT SINAI HOSPITAL   (Canada)

^e INSERM   (France)

Author keywords

Coats plus; CST; CTC1; Exo1; POT1; Telomerase; Telomere

Indexed keywords

ATR PROTEIN; CST PROTEIN; CTC1 PROTEIN; DNA; PROTECTION OF TELOMERES 1; PROTEIN; TELOMERASE; UNCLASSIFIED DRUG; AMINOPEPTIDASE; ATM PROTEIN; ATR PROTEIN, HUMAN; CTC1 PROTEIN, HUMAN; DIPEPTIDYL PEPTIDASE; POT1 PROTEIN, HUMAN; PROTEIN BINDING; SERINE PROTEINASE; TELOMERE BINDING PROTEIN; TRIPEPTIDYL-PEPTIDASE 1;

ARTICLE; CASE REPORT; CELL PROLIFERATION; CONTROLLED STUDY; DNA DAMAGE; DNA REPLICATION; DNA SYNTHESIS; EXUDATIVE RETINITIS; FIBROBLAST; GASTROINTESTINAL HEMORRHAGE; GENE MUTATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN CELL; IN VITRO STUDY; METAPHASE CHROMOSOME; PATHOGENESIS; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; TELOMERE; TELOMERE SHORTENING; ATAXIA; BRAIN CYST; BRAIN TUMOR; CALCINOSIS; CELL CULTURE; FEMALE; GENETICS; LEUKOENCEPHALOPATHY; METABOLISM; METAPHASE; MUTATION; PATHOLOGY; RETINA DISEASE; SEIZURE; SPASTICITY; TELOMERE HOMEOSTASIS;

AMINOPEPTIDASES; ATAXIA; ATAXIA TELANGIECTASIA MUTATED PROTEINS; BRAIN NEOPLASMS; CALCINOSIS; CELLS, CULTURED; CENTRAL NERVOUS SYSTEM CYSTS; DIPEPTIDYL-PEPTIDASES AND TRIPEPTIDYL-PEPTIDASES; FEMALE; HUMANS; LEUKOENCEPHALOPATHIES; METAPHASE; MUSCLE SPASTICITY; MUTATION; PROTEIN BINDING; RETINAL DISEASES; SEIZURES; SERINE PROTEASES; SIGNAL TRANSDUCTION; TELOMERE; TELOMERE HOMEOSTASIS; TELOMERE SHORTENING; TELOMERE-BINDING PROTEINS;

EID: 84962393930     PISSN: 08909369     EISSN: 15495477     Source Type: Journal    
DOI: 10.1101/gad.276873.115     Document Type: Article

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