Results 61 to 70 of about 8,250 (205)

Unveiling the Diagnostic Value and Potential Therapeutic Targets of Phenylalanine Metabolism in Pancreatic Cancer via Integrated Multi‐Omics and Machine Learning

The FASEB Journal, Volume 40, Issue 18, 30 September 2026.
MR identified phenylalanine as a causal PC risk factor (OR 1.18). A 5‐gene RF model (AUC 0.955) highlighted SLC6A14 as the top biomarker. Single‐cell analysis revealed epithelial–immune crosstalk. Molecular docking identified genistein (−9.1 kcal/mol) as a lead SLC6A14‐targeting compound.
Xing Liu, Yibin Li, Fangfang Qin, Jianghong Ou   +3 more
wiley   +1 more source

Temporal bone abnormalities in children with GJB2 mutations [PDF]

The Laryngoscope, 2011
AbstractObjectives:To determine the incidence of temporal bone abnormalities in children with sensorineural hearing loss (SNHL) and pathogenic biallelic GJB2 mutations.Study Design:Retrospective analysis of a large cohort of pediatric patients with biallelic GJB2 mutations and SNHL (observational case series).Methods:Blinded review of all available ...
Margaret A, Kenna, Heidi L, Rehm, Anna, Frangulov, Henry A, Feldman, Caroline D, Robson   +4 more
openaire   +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
Arti Pandya, Alexander O'Brien, Michael Kovasala, Guney Bademci, Mustafa Tekin, Kathleen S. Arnos   +5 more
doaj   +1 more source

Molecular and Cellular Hallmarks of Age‐Related Vestibular Hair Cell Degeneration

Advanced Science, Volume 13, Issue 53, 24 September 2026.
This study utilizes single‐cell RNA‐seq transcriptomes, advanced imaging, and electrophysiology to examine universal and cell‐type‐specific aging signatures of vestibular hair cells. The study shows that impaired hair bundle function is a key driver of age‐related vestibular dysfunction.
Samadhi Kulasooriya, Huizhan Liu, Sarath Vijayakumar, Celia Bloom, Zhenhang Xu, Shu Tu, Benjamin J. Borgmeier, Mi Zhou, Litao Tao, Bechara Kachar, David Z. He   +10 more
wiley   +1 more source

Whole Exome Sequencing Identified a Novel Mutation in the LOXHD1 Gene in Consanguineous Iranian Families With Hearing Loss

Journal of Clinical Laboratory Analysis, Volume 40, Issue 18, September 2026.
Whole exome sequencing in a consanguineous Iranian family with autosomal recessive non‐syndromic hearing loss revealed a novel homozygous frameshift mutation, c.3713dupA (p.Asp1238Glufs*10), in the LOXHD1 gene. This mutation, located in exon 24, results in a premature stop codon and a truncated protein. Sanger sequencing confirmed co‐segregation of the
Solmaz Hassani Fard Katiraei, Milad Gholami, Mohsen Soosanabadi, Mona Entezam, Seyed Alireza Dastgheib   +4 more
wiley   +1 more source

Connexin26 gene (GJB2): prevalence of mutations in the Chinese population [PDF]

Journal of Human Genetics, 2002
The connexin26 gene ( GJB2) has been shown to be responsible for DFNB1 and DFNA3 (Autosomal Recessive Hereditary Nonsyndromic Deafness Locus 1 and Autosomal Dominant Hereditary Nonsyndromic Deafness Locus 3). Two hundred ten independently ascertained Chinese probands with nonsyndromic hearing loss (NSHL) were evaluated for mutations in GJB2, including ...
Yuhe, Liu, Xiaomei, Ke, Yu, Qi, Wei, Li, Ping, Zhu   +4 more
openaire   +2 more sources

Deficient Gap Junction Coupling in Two Common Hearing Loss-Related Variants of [PDF]

Clinical and Experimental Otorhinolaryngology
Objectives. The aim of this study was to explore the functional consequences of two common variants, p.V37I and c.299-300delAT, in the hearing loss-associated gene GJB2. Methods.
Kaitian Chen, Hongyan Jiang
doaj   +1 more source

Screening of GJB2 mutations in Chinese population

Journal of Otology, 2007
AbstractThe GJB2 gene (connexin 26) has been shown to be responsible for DFNB1 and DFNA3. We screened the GJB2 gene in 488 patients with prelingual deafness(Group 1), 124 with postlingual deafness(Group 2), and 117 normal hearing subjects (Group 3).
Ming-kun, Han, Dong-yi, Han, Yu-fen, Guo, Qing-zhong, Li, Ya-li, Zhao, Shao-qi, Rao, Hu, Yuan, Liang, Zong, Jing, Guan, Bai-cheng, Xu, Da-yong, Wang, lan, Lan, Qiu-ju, Wang   +12 more
openaire   +1 more source

Exploring the clinical and epidemiological complexity of GJB2-linked deafness.

, 2002
GJB2 mutation analysis was performed in 179 unrelated subjects with sporadic or familial hearing loss (HL). Among 57 families, 18 showed a vertical transmission of HL, the disease being present in two or three generations. Besides 155 nonsyndromic cases,
GUALANDI F, FERLINI, Alessandra, SENSI A, MAZZOLI M, CALZOLARI E., A. FERLINI, TRABANELLI C, FALCIANO F, MARTINI, ALESSANDRO, TRABANELLI, Cecilia, FALCIANO, Francesco, BERTO, Anna, BERTO A, TIBILETTI MG, CRISTOFARI E, BURDO S, SENSI, Alberto, RAVANI A, CALZOLARI, Elisa, TREVISI, PATRIZIA, GUALANDI, Francesca   +20 more
core   +1 more source

A molecular landscape and prognosis signature based on histone tyrosine sulfation in pan‐cancer analysis

Clinical and Translational Discovery, Volume 6, Issue 4, August 2026.
A pan‐cancer transcriptional signature based on histone tyrosine sulfation (HYsulf) reveals associations with immune infiltration, metabolic reprogramming and patient prognosis, thereby enabling the development of predictive nomograms for PCPG and UVM.
Meijuan Cai, Yuhao Liao, Jun Lin, Xumeng Chen, Jiale Wang, Zhijuan Li, Zhengjun Yang, DianKui Cai   +7 more
wiley   +1 more source