The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family

scientific article published in October 2002

The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1034/J.1399-0004.2002.620409.X
P698PubMed publication ID12372058

P2093author name stringB Wollnik
A Ghanbari
C Baykal
G Hafiz
M Emiroglu
M Yuksel-Apak
O Uyguner
T Tukel
H Eris
N Baserer
P2860cites workConnexin 26 mutations in hereditary non-syndromic sensorineural deafnessQ28115871
Diverse functions of vertebrate gap junctionsQ28645877
Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generationsQ30495397
The palmoplantar keratodermas: much more than palms and soles.Q33594145
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated familiesQ33864995
Connexin mutations in skin disease and hearing lossQ34141214
A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)Q35433462
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing lossQ35434741
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 geneQ38970459
Vohwinkel's syndrome and deafnessQ39835005
Connexins, connexons, and intercellular communicationQ41114815
Connexin 26 gene linked to a dominant deafnessQ47991729
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in MediterraneansQ48045551
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.Q50495597
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.Q50502976
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.Q50507810
P433issue4
P921main subjecthearing lossQ16035842
P304page(s)306-309
P577publication date2002-10-01
P1433published inClinical GeneticsQ5133760
P1476titleThe novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family
P478volume62

Reverse relations

cites work (P2860)
Q57304603A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family
Q35221985A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26.
Q50354469Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness
Q34603432Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairment
Q28507910Assembly of the cochlear gap junction macromolecular complex requires connexin 26.
Q50353863Autosomal dominant hearing loss resulting from p.R75Q mutation in the GJB2 gene: nonsyndromic presentation in a South Indian family.
Q35161187Connexin gene pathology
Q37638797Connexin-26 mutations in deafness and skin disease.
Q38266258Connexins and gap junctions in the inner ear--it's not just about K⁺ recycling
Q38330396Connexins and skin disease: insights into the role of beta connexins in skin homeostasis.
Q58859701Disorders of Keratinization
Q24793743First molecular screening of deafness in the Altai Republic population
Q34203606Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss
Q38006692GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss
Q48173174GJB2: the spectrum of deafness-causing allele variants and their phenotype.
Q37002828Genetic diseases of junctions.
Q57284005Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss
Q34159800Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26
Q44972159Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes
Q37915593Key functions for gap junctions in skin and hearing
Q36600743Molecular and physiological bases of the K+ circulation in the mammalian inner ear.
Q35785798Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology
Q42716740The potency of the fs260 connexin43 mutant to impair keratinocyte differentiation is distinct from other disease-linked connexin43 mutants
Q26827294The role of connexins in ear and skin physiology - functional insights from disease-associated mutations
Q54572793Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
Q88018478[Palmoplantar dermatoses: when should genes be considered?]

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