Results 1 to 10 of about 1,850 (127)

Clinical and Genetic Characterization of Gap Junction Protein β-6 Variants in Non-Syndromic Hearing Loss: A Case Report with Familial Evaluation and In Silico Analyses [PDF]

Iranian Journal of Medical Sciences
Non-syndromic sensorineural hearing loss (NSHL) exhibits substantial genetic heterogeneity, and the identification of its causative variants remains an important challenge.
Fateme Zahedi Abghari, Marzieh Mohseni, Emran Esmaeilzadeh, Hossein Ghasemi, Hamid Reza Khorram Khorshid, Reza Najafipour   +5 more
doaj   +2 more sources

Calcium-modulated GJB6-GRHL3 positive feedback loop attenuates ESCC progression through AKT signaling pathway inhibition [PDF]

npj Precision Oncology
Esophageal squamous cell carcinoma (ESCC) is an aggressive malignancy characterized by dismal outcomes, but its molecular pathogenesis remains incompletely understood.
Jing Ren, Zhinan Zhou, Yanyan Dong, Yingzhen Gao, Xin Yang, Yingying Zhang, Mengyuan Yang, Xiaolong Cheng, Yongping Cui, Pengzhou Kong   +9 more
doaj   +2 more sources

Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families

Molecular Genetics & Genomic Medicine, 2020
Background Mutations involving the closely linked GJB2 and GJB6 at the DFNB1 locus are a common genetic cause of profound congenital hearing loss in many populations. In some deaf GJB2 heterozygotes, a 309 kb deletion involving the GJB6 has been found to
Mustafa Tekin, Güney Bademci, Arti Pandya   +2 more
exaly   +2 more sources

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population-Specific Variants and Clinical Correlations. [PDF]

Clin Genet
The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Diogo-Cavassana S, Alencar-Coutinho D, Abreu-Oberhuber R, Paramo-Neto ME, Oiticica J, Bento RF, Batissoco AC, Lezirovitz K.   +7 more
europepmc   +2 more sources

GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis. [PDF]

Anim Genet
Abstract Palmoplantar keratoderma in humans is a condition defined by an abnormally thickened cornified skin layer on the hands and feet. In animals, the corresponding disease is commonly termed paw pad hyperkeratosis. It can be acquired due to repeated trauma, infections, cancer, or inflammatory dermatoses, or inherited due to pathogenic variants in ...
Rietmann SJ, Malatos J, Jagannathan V, Leeb T.   +3 more
europepmc   +2 more sources

A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene [PDF]

Molecular Genetics & Genomic Medicine
GJB2 and GJB6 variants, encoding Cx26 and Cx30 respectively, are the most frequently involved genes commonly contributing to hereditary hearing loss either isolated or in combination with skin abnormalities.
Badreddine Elmakhzen, Paul Rollier, Clémence Saillard, Benoit Godey, Cédric Le Marechal, Paul Gueguen, Isabelle Fajardy, Sylvie Odent, Laurent Pasquier   +8 more
doaj   +2 more sources

Frequency of GJB2 mutations, GJB6-D13S1830 and GJB6-D13S1854 deletions among patients with non-syndromic hearing loss from the central region of Iran

Molecular Genetics & Genomic Medicine, 2019
Background In the present study, we investigate the prevalence of the GJB2 gene mutations, and deletions in the GJB6 gene, namely del (GJB6‐D13S1830) and del (GJB6‐D13S1854), in patients with autosomal recessive non‐syndromic hearing loss (ARNSHL) from ...
Shiva Irani, Zahra Noormohammadi
exaly   +2 more sources

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1. [PDF]

Int J Dev Neurosci
A de novo ELOVL1 variant causes syndromic spastic paraparesis with congenital ichthyosis, cerebellar signs and white matter abnormalities. Long‐term clinical and MRI follow‐up showed mild motor and neuroradiological progression with preserved intelligence and subtle cognitive efficiency decline, supporting the hypothesis of a primary neuronal disease ...
Vaia Y, Mura E, Bruschi F, Zambrano S, Brena M, Tadini G, Arrigoni F, Antonello CE, Uggetti C, Parazzini C, Veggiotti P, Tonduti D.   +11 more
europepmc   +2 more sources

The variants and prevalence of the GJB2 and GJB6 in patients with non-syndromic congenital sensorineural hearing loss in Maluku, Indonesia

The Egyptian Journal of Otolaryngology
Background Mutations in the GJB2 (connexin 26) and GJB6 (connexin 30) genes are the most common causes of congenital non-syndromic sensorineural hearing loss.
Irfan Idris, Abdul Qadar Punagi
exaly   +2 more sources

Molecular Changes Induced by Carbon Dioxide Laser in Hailey-Hailey Disease: A Potential Mechanism Underlying Treatment Efficacy. [PDF]

Int J Dermatol
ABSTRACT Introduction Hailey‐Hailey disease (HHD) is a rare genodermatosis caused by mutations in the ATP2C1 gene that codes for SPCA1, a calcium transporter in the epidermis. HHD impairs quality of life, and no curative treatment exists. Methods To confirm the efficacy and safety of CO2 laser in HHD, we conducted a randomized, prospective, controlled ...
Antoñanzas J, España A, Gorostidi A, Patiño-García A, Araúzo-Bravo MJ, Gerovska D, Salido-Vallejo R, Aguado-Gil L.   +7 more
europepmc   +2 more sources