Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies

American Journal of Human Genetics

Volumn 97, Issue 5, 2015, Pages 754-760

  Angebault, Claire ^a   Guichet, Pierre Olivier ^a   Talmat Amar, Yasmina ^a   Charif, Majida ^a,b   Gerber, Sylvie ^c   Fares Taie, Lucas ^c   Gueguen, Naig ^b   Halloy, François ^a   Moore, David ^d   Amati Bonneau, Patrizia ^b   Manes, Gael ^a   Hebrard, Maxime ^a   Bocquet, Béatrice ^e   Quiles, Mélanie ^a   Piro Mégy, Camille ^a   Teigell, Marisa ^a   Delettre, Cécile ^a   Rossel, Mireille ^f   Meunier, Isabelle ^a,e   Preising, Markus ^g   Lorenz, Birgit ^g   Carelli, Valerio ^h,i   Chinnery, Patrick F ^d   Yu Wai Man, Patrick ^d,j   Kaplan, Josseline ^c   Roubertie, Agathe ^a,e   Barakat, Abdelhamid ^k   Bonneau, Dominique ^b   Reynier, Pascal ^b   Rozet, Jean Michel ^c   Bomont, Pascale ^a   Hamel, Christian P ^a,e   Lenaers, Guy ^a,b   more..

^a UNIV MONTPELLIER   (France)

^b INSERM   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e GUI DE CHAULIAC HOSPITAL   (France)

^f University of Montpellier   (France)

^g JUSTUS LIEBIG UNIVERSITY GIESSEN   (Germany)

^h BELLARIA HOSPITAL   (Italy)

ⁱ UNIVERSITY OF BOLOGNA   (Italy)

^j ROYAL VICTORIA INFIRMARY   (United Kingdom)

^k Institut Pasteur du Maroc   (Morocco)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; FIBROBLAST; GENE; GENE EXPRESSION; GENE SILENCING; HUMAN; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; OPTIC NERVE DISEASE; PRIORITY JOURNAL; RTN4IP1 GENE; ULTRAVIOLET RADIATION; AMINO ACID SEQUENCE; ANIMAL; ANTAGONISTS AND INHIBITORS; CASE CONTROL STUDY; CELL CULTURE; COMPARATIVE STUDY; FEMALE; FOLLOW UP; GENETICS; GROWTH, DEVELOPMENT AND AGING; MALE; METABOLISM; MITOCHONDRION; MOLECULAR GENETICS; MOUSE; MUTATION; NERVE DEGENERATION; PATHOLOGY; PEDIGREE; PROGNOSIS; RECESSIVE GENE; RETINA GANGLION CELL; SEQUENCE HOMOLOGY; ZEBRA FISH;

CARRIER PROTEIN; MITOCHONDRIAL PROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RTN4IP1 PROTEIN, HUMAN;

AMINO ACID SEQUENCE; ANIMALS; CARRIER PROTEINS; CASE-CONTROL STUDIES; CELLS, CULTURED; ELECTRON TRANSPORT COMPLEX I; FEMALE; FIBROBLASTS; FOLLOW-UP STUDIES; GENES, RECESSIVE; HUMANS; MALE; MICE; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NERVE DEGENERATION; OPTIC NERVE DISEASES; PEDIGREE; PROGNOSIS; RETINAL GANGLION CELLS; SEQUENCE HOMOLOGY, AMINO ACID; ZEBRAFISH;

EID: 84947924596     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.09.012     Document Type: Article

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