Results 71 to 80 of about 8,250 (205)

Expression of GJB2 and GJB6 Is Reduced in a Novel DFNB1 Allele [PDF]

, 2006
In a large kindred of German descent, we found a novel allele that segregates with deafness when present in trans with the 35delG allele of GJB2. Qualitative polymerase chain reaction–based allele-specific expression assays showed that expression of both
Zhu, Mei, Friderici, Karen H., Kirk B. Burkhart, Karen H. Friderici, Fisher, Rachel A., Jill L. Elfenbein, Regier, Martha, Elfenbein, Jill L., Mei Zhu, Ellen Wilch, Martha Regier, Rachel A. Fisher, Burkhart, Kirk B., Wilch, Ellen   +13 more
core   +1 more source

Exome sequencing analysis reveals homozygous GJB2 gene mutation in a Mexican family with profound hearing loss

Revista Médica del Hospital General de México, 2017
Background: Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous disease. In some populations, c.365delG mutation in the GJB2 gene represents the most frequent cause of hereditary SNHL.
M. Martínez-Saucedo, M.R. Rivera-Vega, L.M. Gonzalez-Huerta, H. Urueta-Cuéllar, S.A. Cuevas-Covarrubias   +4 more
doaj   +1 more source

Integrated Clinical Trial and Molecular Profiling Reveals Immune Drivers of Chronic Hand Eczema

Allergy, Volume 81, Issue 8, Page 2815-2832, August 2026.
This study performed an unbiased molecular profiling of CHE patients across diverse etiologies to identify shared pathogenic drivers and evaluate the impact of IL‐4Rα blockade via dupilumab over 16 weeks. CHE shows a mixed immune signature involving type 1, 2, and 3 pathways with features of atopic dermatitis and psoriasis.
Perrine Gery, Rüçhan Ekren, Emilie Bérard, Aurélie Du‐Thanh, Hugo Rimet, Fatma Jendoubi, Vanina Lenief, Nadia Raison‐Peyron, Amel Bouznad, Maria P. Konstantinou, Jonathan Rioual, Lilian Basso, Juliette Mouiren, Manon Boussier, Brigitte Milpied, Cristina Bulai Livideanu, Louise Jaulent, Florence Hacard, Marine A. Lefevre, Audrey Nosbaum, Julien Seneschal, Marc Vocanson, Carle Paul, Nicolas Gaudenzio, Marie Tauber, on behalf of the French Atopic Dermatitis Network from de GREAT Research group   +25 more
wiley   +1 more source

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population‐Specific Variants and Clinical Correlations

Clinical Genetics, Volume 110, Issue 2, Page 210-226, August 2026.
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.
Stella Diogo‐Cavassana, Danillo Alencar‐Coutinho, Rafaella Abreu‐Oberhuber, Maria Eduarda Paramo‐Neto, Jeanne Oiticica, Ricardo Ferreira Bento, Ana Carla Batissoco, Karina Lezirovitz   +7 more
wiley   +1 more source

Clinical manifestation in families subjected to GJB2 sequence analysis.

, 2021
Clinical manifestation in families subjected to GJB2 sequence analysis.
Nabila Kausar (11603951), Muhammad Shareef Masoud (7326062), Usman Ali Ashfaq (9386004), Ali Muhammad Waryah (11603954), Asma Haque (9421651), Muhammad Qasim (397533), Nazia Nahid (2559313), Rashid Bhatti (10090683)   +7 more
core   +1 more source

Familial and Sporadic GJB2-Related Deafness in Iran: Review of Gene Mutations [PDF]

, 2007
Background: Mutations in the GJB2 gene encoding connexin 26 protein, are the main cause for autosomal recessive and sporadic non syndromic hearing loss in many populations.
M Hashemzadeh Chaleshtori, Patton, M.A., Ma Patton, Farhud, D.D., Dd Farhud, Hashemzadeh Chaleshtori, M.   +5 more
core   +1 more source

First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss

Turkish Archives of Otorhinolaryngology, 2019
Objective:The aim of this study is to investigate the efficiency of a first-line molecular genetic evaluation approach, in children with deafness.Methods:Patients who were found to have sensorineural hearing loss by age-appropriate audiological tests ...
Berk Özyılmaz, Gül Caner Mercan, Özgür Kırbıyık, Taha Reşid Özdemir, Samira Özkara, Özge Özer Kaya, Yaşar Bekir Kutbay, Kadri Murat Erdoğan, Merve Saka Güvenç, Altuğ Koç   +9 more
doaj   +1 more source

Pattern of GJB2-Mutations Causing Sensoneural Hearing Imparing in Ghana

, 2006
Seit der Kartierung des ersten Krankheitslocus für nichtsyndromische rezessive Gehörlosigkeit DFNB1 auf 13q12 wurden mehr als 60 Loci für rezessive nichtsyndromische Schwerhörigkeit identifiziert, und über 30 der betroffenen Gene wurden kloniert.
Albrecht, Katrin
core  

Integrin α5β1‐mediated multicellular crosstalk in the tumor microenvironment drives bladder cancer progression and reveals targetable vulnerabilities

iMetaOmics, Volume 3, Issue 2, June 2026.
Integrating multiplexed immunofluorescence, animal models, and clinical samples, our single‐cell and spatial atlas maps tumor microenvironment evolution during bladder cancer (BCa) progression. We reveal that stemness‐associated tumor cells (SDC1+), POSTN+ myofibroblastic cancer‐associated fibroblasts (mCAFs), and immunosuppressive monocytic myeloid ...
Ting Liang, Wuwu Xu, Hu Fang, Lu Fu, Dashi Deng, Chenchen Li, Lisha Liu, Dongdong Tang, Huancheng Yang, Fang Liu, Xing Xiong, Guangzhi Li, Song Wu, Tao Tao   +13 more
wiley   +1 more source

Jervell and Lange‐Nielsen Syndrome Related Clinical Genetics and Experimental Models

Pediatric Discovery, Volume 4, Issue 2, June 2026.
ABSTRACT Jervell and Lange‐Nielsen syndrome (JLNS) is defined by electrocardiographic QT prolongation and sensorineural hearing loss, caused by homozygous or compound heterozygous variants in KCNQ1 and/or KCNE1. KCNQ1 encodes the alpha subunit Kv7.1 of the ion channels accountable for slow delayed rectifier potassium currents (IKs), whereas KCNE1 ...
Yafei Zhou, Christopher L.‐H. Huang, Ying Yang, Yanmin Zhang   +3 more
wiley   +1 more source