Truncation of POC1A associated with short stature and extreme insulin resistance

Journal of Molecular Endocrinology

Volumn 55, Issue 2, 2015, Pages 147-158

  Chen, Jian Hua ^a,b   Segni, Maria ^c   Payne, Felicity ^d   Huang Doran, Isabel ^a,b   Sleigh, Alison ^a,b   Adams, Claire ^a,b   Durbin, Richard ^e   Muddyman, Dawn ^e   Soranzo, Nicole ^e   Timpson, Nic ^f   Spector, Tim ^g   Richards, Bren ^h   Palotie, Aarno ⁱ   Owen, Michael ^j   Barrett, Jeff ^e,n   Geschwind, Daniel ^k   Hurles, Matt ^l   Fitzpatrick, David ^l   Barroso, Inês ^a,b,d,m   Farooqi, Sadaf ^a   Zeggini, Eleftheria ⁿ   Kaye, Jane ^o   Kennedy, Karen ^e   McCarthy, Shane ^e   Stalker, Jim ^e   Langford, Cordelia ^e   Keane, Thomas ^e   Savage, David B ^a,b   O’Rahilly, Stephen ^a,b   Semple, Robert K ^a,b   more..

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b The National Institute for Health Research Cambridge Biomedical Research Centre ^*  (United Kingdom)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^e WTSI   (United States)

^f UNIVERSITY OF BRISTOL   (United Kingdom)

^g KING'S COLLEGE LONDON   (United Kingdom)

^h MCGILL UNIVERSITY   (Canada)

ⁱ Neuro Group Co chair WTSI   (United States)

^j CARDIFF UNIVERSITY   (United Kingdom)

^k UNIVERSITY OF CALIFORNIA   (United States)

^l Rare Group Co Chair WTSI   (United States)

^m Obesity Group Co chair WTSI   (United States)

ⁿ Statistics Group Co chair WTSI   (United States)

^o UNIVERSITY OF OXFORD   (United Kingdom)

more..

Author keywords

Centriole; Centrosome; Diabetes; Dyslipidaemia; Insulin resistance; POC1A; Primary cilium; Short stature; Skeletal dysplasia

Indexed keywords

CYTOPLASM PROTEIN; GENOMIC DNA; GLUCOSE; INSULIN; POC1A PROTEIN; UNCLASSIFIED DRUG; CELL CYCLE PROTEIN; ISOPROTEIN; POC1A PROTEIN, HUMAN; PROTEIN;

ACANTHOSIS NIGRICANS; ADULT; ARTICLE; BODY COMPOSITION; BONE DYSPLASIA; CASE REPORT; CENTROSOME; DNA CONTENT; DNA EXTRACTION; DUAL ENERGY X RAY ABSORPTIOMETRY; DWARFISM; DYSLIPIDEMIA; EXOME; FACE DYSMORPHIA; FATTY LIVER; FEMALE; FIBROBLAST; FIBROBLAST CULTURE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENETIC ANALYSIS; GLUCOSE BLOOD LEVEL; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; INSULIN BLOOD LEVEL; INSULIN RESISTANCE; MITOSIS SPINDLE; ORAL GLUCOSE TOLERANCE TEST; PRIORITY JOURNAL; RADIOLOGY; SEQUENCE ANALYSIS; SHORT STATURE; SKIN BIOPSY; AMINO ACID SEQUENCE; BODY HEIGHT; CELL CYCLE; CENTRIOLE; FACIES; GENETICS; MITOSIS; MOLECULAR GENETICS; PHYSIOLOGY; SEQUENCE ALIGNMENT; SPINDLE APPARATUS;

ADULT; AMINO ACID SEQUENCE; BODY HEIGHT; CELL CYCLE; CELL CYCLE PROTEINS; CENTRIOLES; CENTROSOME; DWARFISM; FACIES; FATTY LIVER; FEMALE; FRAMESHIFT MUTATION; HUMANS; INSULIN RESISTANCE; MITOSIS; MOLECULAR SEQUENCE DATA; PROTEIN ISOFORMS; PROTEINS; SEQUENCE ALIGNMENT; SPINDLE APPARATUS;

EID: 84944314739     PISSN: 09525041     EISSN: 14796813     Source Type: Journal    
DOI: 10.1530/JME-15-0090     Document Type: Article

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