Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

Nature Genetics

Volumn 41, Issue 2, 2009, Pages 228-233

  Wen, Yaran ^a   Liu, Yang ^b   Xu, Yiming ^a   Zhao, Yiwei ^c   Hua, Rui ^a   Wang, Kaibo ^b   Sun, Miao ^a   Li, Yuanhong ^b   Yang, Sen ^d   Zhang, Xue Jun ^d   Kruse, Roland ^e   Cichon, Sven ^f   Betz, Regina C ^f   Nöthen, Markus M ^f   Van Steensel, Maurice A M ^g   Van Geel, Michel ^g   Steijlen, Peter M ^g   Hohl, Daniel ^h   Huber, Marcel ^h   Dunnill, Giles S ⁱ   Kennedy, Cameron ⁱ   Messenger, Andrew ^j   Munro, Colin S ^k   Terrinoni, Alessandro ^l   Hovnanian, Alain ^m   Bodemer, Christine ⁿ   De Prost, Yves ⁿ   Paller, Amy S ^o   Irvine, Alan D ^p,q   Sinclair, Rod ^r   Green, Jack ^r   Shang, Dandan ^a   Liu, Qing ^a   Luo, Yang ^b   Jiang, Li ^b   Chen, Hong Duo ^b   Lo, Wilson H Y ^a   McLean, W H Irwin ^c   He, Chun Di ^b   Zhang, Xue ^a,b   more..

^a INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

^b CHINA MEDICAL UNIVERSITY   (China)

^c UNIVERSITY OF DUNDEE   (United Kingdom)

^d ANHUI MEDICAL UNIVERSITY   (China)

^e HEINRICH HEINE UNIVERSITY   (Germany)

^f UNIVERSITY OF BONN   (Germany)

^g MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^h LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

ⁱ BRISTOL ROYAL INFIRMARY   (United Kingdom)

^j ROYAL HALLAMSHIRE HOSPITAL   (United Kingdom)

^k SOUTHERN GENERAL HOSPITAL   (United Kingdom)

^l UNIVERSITY OF ROME TOR VERGATA   (Italy)

^m INSERM   (France)

ⁿ HÔPITAL NECKER ENFANTS MALADES   (France)

^o NORTHWESTERN UNIVERSITY   (United States)

^p OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^q TRINITY COLLEGE DUBLIN   (Ireland)

^r ST VINCENT S HOSPITAL   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE EXPRESSION REGULATION; GENE FUNCTION; GENE MUTATION; GENETIC CODE; GENETIC DISORDER; GENETIC LINKAGE; GROWTH REGULATION; HAIR GROWTH; HAIR LOSS; HUMAN; HUMAN CELL; HYPOTRICHOSIS; LOSS OF FUNCTION MUTATION; MALE; MARIE UNNA HEREDITARY HYPOTRICHOSIS; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA TRANSLATION; START CODON; STOP CODON; U2HR GENE;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHINA; DOWN-REGULATION; FAMILY; FEMALE; HUMANS; HYPOTRICHOSIS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OPEN READING FRAMES; PEDIGREE; PROTEIN BIOSYNTHESIS; REGULATORY SEQUENCES, NUCLEIC ACID; SEQUENCE HOMOLOGY, NUCLEIC ACID; TRANSCRIPTION FACTORS;

MAMMALIA;

EID: 59149083659     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.276     Document Type: Article

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