Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

Nature Genetics

Volumn 47, Issue 7, 2015, Pages 757-765

  Kohl, Susanne ^a   Zobor, Ditta ^a   Chiang, Wei Chieh ^b   Weisschuh, Nicole ^a   Staller, Jennifer ^a   Menendez, Irene Gonzalez ^a   Chang, Stanley ^c,d   Beck, Susanne C ^a   Garrido, Marina Garcia ^a   Sothilingam, Vithiyanjali ^a   Seeliger, Mathias W ^a   Stanzial, Franco ^e   Benedicenti, Francesco ^e   Inzana, Francesca ^e   Héon, Elise ^f   Vincent, Ajoy ^f   Beis, Jill ^g   Strom, Tim M ^h,i   Rudolph, Günther ^j   Roosing, Susanne ^k   Hollander, Anneke I Den ^k   Cremers, Frans P M ^k   Lopez, Irma ^l   Ren, Huanan ^l   Moore, Anthony T ^m,n,o   Webster, Andrew R ^m,n   Michaelides, Michel ^m,n   Koenekoop, Robert K ^l   Zrenner, Eberhart ^a,p   Kaufman, Randal J ^q   Tsang, Stephen H ^c,r   Wissinger, Bernd ^a   Lin, Jonathan H ^b,s   more..

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c Och Spine at New York Presbyterian Hospitals   (United States)

^d NEW YORK PRESBYTERIAN HOSPITAL   (United States)

^e Regional Hospital Bozen   (Italy)

^f HOSPITAL FOR SICK CHILDREN   (Canada)

^g IWK HEALTH CENTRE   (Canada)

^h INSTITUTE OF EPIDEMIOLOGY   (Germany)

ⁱ TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^j LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^k RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^l MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^m UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁿ MOORFIELDS EYE HOSPITAL   (United Kingdom)

^o UNIVERSITY OF CALIFORNIA   (United States)

^p UNIVERSITY OF TÜBINGEN   (Germany)

^q BURNHAM INSTITUTE   (United States)

^r NewYork Presbyterian Hospital   (United States)

^s UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATING TRANSCRIPTION FACTOR 6; AGAROSE; MESSENGER RNA; ATF6 PROTEIN, HUMAN;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD SAMPLING; CHROMOSOME 1; COLOR BLINDNESS; ENDOPLASMIC RETICULUM; ENDOPLASMIC RETICULUM STRESS; EXON; EXON SKIPPING; GENE MUTATION; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HYPOPLASIA; INTRON RETENTION; LYMPHOCYTE; MISSENSE MUTATION; NONHUMAN; NYSTAGMUS; PHOTOPHOBIA; PHOTORECEPTOR; PREDICTION; PRIORITY JOURNAL; RETINA CONE; SEGREGATION ANALYSIS; UNFOLDED PROTEIN RESPONSE; VISUAL ACUITY; ADOLESCENT; ADULT; ANIMAL; C57BL MOUSE; CHILD; COLOR VISION DEFECT; FEMALE; GENETIC ASSOCIATION STUDY; GENETIC TRANSCRIPTION; GENETICS; HEK293 CELL LINE; KNOCKOUT MOUSE; MALE; MIDDLE AGED; PATHOLOGY; PEDIGREE; VERY ELDERLY; YOUNG ADULT;

MUS;

ACTIVATING TRANSCRIPTION FACTOR 6; ADOLESCENT; ADULT; AGED, 80 AND OVER; ANIMALS; CHILD; COLOR VISION DEFECTS; FEMALE; GENETIC ASSOCIATION STUDIES; HEK293 CELLS; HUMANS; MALE; MICE, INBRED C57BL; MICE, KNOCKOUT; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; RETINAL CONE PHOTORECEPTOR CELLS; TRANSCRIPTION, GENETIC; UNFOLDED PROTEIN RESPONSE; YOUNG ADULT;

EID: 84933277514     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3319     Document Type: Article

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