A germline variant in the PANX1 gene has reduced channel function and is associated with multisystem dysfunction

Journal of Biological Chemistry

Volumn 291, Issue 24, 2016, Pages 12432-12443

  Shao, Qing ^a   Lindstrom, Kristin ^b   Shi, Ruoyang ^c,d   Kelly, John ^a   Schroeder, Audrey ^e   Juusola, Jane ^f   Levine, Kara L ^f   Esseltine, Jessica L ^a   Penuela, Silvia ^a   Jackson, Michael F ^c,d   Laird, Dale W ^a  

^a UNIVERSITY OF WESTERN ONTARIO   (Canada)

^b PHOENIX CHILDREN'S HOSPITAL   (United States)

^c UNIVERSITY OF MANITOBA   (Canada)

^d HEALTH SCIENCES CENTRE   (Canada)

^e UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^f GENEDX   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACIDS; CELL MEMBRANES; COCHLEAR IMPLANTS; ELECTROPHYSIOLOGY;

CELL SURFACES; CHANNEL FUNCTIONS; DOMINANT NEGATIVE; HUMAN DISEASE; INTELLECTUAL DISABILITY; ORGAN SYSTEMS; OVARIAN FAILURES; SENSORINEURAL HEARING LOSS;

AUDITION;

ARGININE; HISTIDINE; ADENOSINE TRIPHOSPHATE; GAP JUNCTION PROTEIN; NERVE PROTEIN; PANX1 PROTEIN, HUMAN;

ADOLESCENT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BIOTINYLATION; CASE REPORT; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; EMBRYO; FAMILY HISTORY; FEMALE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIATION; GERMLINE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; KYPHOSCOLIOSIS; LOSS OF FUNCTION MUTATION; MARKER GENE; MISSENSE MUTATION; NONHUMAN; OVARY INSUFFICIENCY; PANX1 GENE; PEDIGREE ANALYSIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; RAT; SKELETON MALFORMATION; ANIMAL; FAMILY HEALTH; GENETICS; HEK293 CELL LINE; HELA CELL LINE; HETEROZYGOTE; HOMOZYGOTE; KYPHOSIS; MALE; METABOLISM; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PEDIGREE; PREMATURE OVARIAN FAILURE; SCOLIOSIS; SECRETION (PROCESS); SYNDROME; TUMOR CELL LINE;

ABNORMALITIES, MULTIPLE; ADENOSINE TRIPHOSPHATE; ADOLESCENT; ANIMALS; CELL LINE, TUMOR; CONNEXINS; CONSANGUINITY; FAMILY HEALTH; FEMALE; GERM-LINE MUTATION; HEARING LOSS, SENSORINEURAL; HEK293 CELLS; HELA CELLS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; KYPHOSIS; MALE; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; PRIMARY OVARIAN INSUFFICIENCY; SCOLIOSIS; SYNDROME;

EID: 84974530680     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M116.717934     Document Type: Article

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