Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

Journal of Clinical Investigation

Volumn 127, Issue 5, 2017, Pages 1991-2006

  Cottineau, Julien ^a,b   Kottemann, Molly C ^c   Lach, Francis P ^c   Kang, Young Hoon ^d   Vély, Frédéric ^e,f   Deenick, Elissa K ^g   Lazarov, Tomi ^d,h   Gineau, Laure ^a,b   Wang, Yi ^a,b   Farina, Andrea ^d   Chansel, Marie ^a,b   Lorenzo, Lazaro ^a,b   Piperoglou, Christelle ^e,f   Ma, Cindy S ^g   Nitschke, Patrick ^b,i   Belkadi, Aziz ^a,b   Itan, Yuval ^c   Boisson, Bertrand ^a,b,c   Jabot Hanin, Fabienne ^a,b   Picard, Capucine ^a,b,c,i   Bustamante, Jacinta ^a,b,c,i   Eidenschenk, Céline ^a,b,s   Boucherit, Soraya ^a,b   Aladjidi, Nathalie ^j   Lacombe, Didier ^k   Barat, Pascal ^l   Qasim, Waseem ^m   Hurst, Jane A ^m   Pollard, Andrew J ⁿ   Uhlig, Holm H ^n,o   Fieschi, Claire ^b,p   Michon, Jean ^q   Bermudez, Vladimir P ^d   Abel, Laurent ^a,b,c   De Villartay, Jean Pierre ^a,b   Geissmann, Frédéric ^d,h   Tangye, Stuart G ^g   Hurwitz, Jerard ^d   Vivier, Eric ^e,f   Casanova, Jean Laurent ^a,b,c,i,r   Smogorzewska, Agata ^c   Jouanguy, Emmanuelle ^a,b,c   more..

^a IMAGINE INSTITUTE   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c ROCKEFELLER UNIVERSITY   (United States)

^d MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^e CENTRE D IMMUNOLOGIE DE MARSEILLE LUMINY   (France)

^f HÔPITAL DE LA CONCEPTION   (France)

^g UNIVERSITY OF NEW SOUTH WALES   (Australia)

^h KING'S COLLEGE LONDON   (United Kingdom)

ⁱ HÔPITAL NECKER ENFANTS MALADES   (France)

^j University Hospital Bordeaux   (France)

^k UNIVERSITÉ DE BORDEAUX   (France)

^l Centre of Clinical Investigation Clinical Epidemiology   (France)

^m GREAT ORMOND STREET HOSPITAL   (United Kingdom)

ⁿ UNIVERSITY OF OXFORD   (United Kingdom)

^o UNIVERSITY OF OXFORD   (United Kingdom)

^p SAINT LOUIS HOSPITAL   (France)

^q INSTITUT CURIE   (France)

^r HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^s GENENTECH INC   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

5' UNTRANSLATED REGION; APOPTOSIS; ARTICLE; CELL CYCLE; CELL CYCLE REGULATION; CELL PROLIFERATION; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; DNA REPLICATION; DNA STRUCTURE; FIBROBLAST; GENOMIC INSTABILITY; GENOTYPE; GO ICHI NI SAN COMPLEX SUBUNIT 1; GROWTH RETARDATION; HUMAN; LOSS OF FUNCTION MUTATION; NATURAL KILLER CELL; NEUTROPENIA; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; ANIMAL; CASE REPORT; DEFICIENCY; FEMALE; GENETIC DISORDER; GENETICS; GROWTH DISORDER; IMMUNE DEFICIENCY; IMMUNOLOGY; INFANT; INTRAUTERINE GROWTH RETARDATION; MALE; MOUSE;

DNA BINDING PROTEIN; GINS1 PROTEIN, HUMAN;

ANIMALS; DNA-BINDING PROTEINS; FEMALE; FETAL GROWTH RETARDATION; GENETIC DISEASES, INBORN; GROWTH DISORDERS; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; KILLER CELLS, NATURAL; MALE; MICE; NEUTROPENIA;

EID: 85018993845     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI90727     Document Type: Article

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