Results 171 to 180 of about 72,015 (263)

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism

Annals of Neurology, Volume 98, Issue 5, Page 932-950, November 2025.
Objective Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a severe early‐onset neurodevelopmental
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Ay Lin Kho, Neil J Ingham, Karen P Steel, Preethi Sheshadri, Franciska Baur, Lea Hentrich, Birgit Gerisch, Mina Zamani, Cesar Alves, Ata Siddiqui, Haidar S Dafsari, Mehri Salari, Anthony E. Lang, Michael Harris, Alice Abdelaleem, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Gholamreza Shariati, Alireza Sedaghat, Jawaher Zeighami, Daniel Calame, Dana Marafi, Ruizhi Duan, Adrian Boehnke, Gary D. Clark, Jill A. Rosenfeld, Carrie A. Mohila, Dora Steel, Saurabh Chopra, Suvasini Sharma, Nicolai Kohlschmidt, Steffi Patzer, Afshin Saffari, Darius Ebrahimi‐Fakhari, Büşra Eser Çavdartepe, Irene J Chang, Erika Beckman, Renate Peters, Andrew Paul Fennell, Bernice Lo, Luisa Averdunk, Felix Distelmaier, Martina Baethmann, Frances Elmslie, Kairit Joost, Sheela Nampoothiri, Dhanya Yesodharan, Hanna Mandel, Amy Kimball, Antonie D. Kline, Cyril Mignot, Boris Keren, Vincent Laugel, Katrin Õunap, Kalpana Devadathan, Frederique M.C. van Berkestijn, Arpana Silwal, Saskia Koene, Sumit Verma, Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz, Gehad ElGhazali, Lauren Mattas, Mohammad Miryounesi, Farzad Hashemi‐Gorji, Shahryar Alavi, Nayereh Nouri, Mehrdad Noruzinia, Saeideh Kavousi, Arveen Kamath, Sandeep Jayawant, Russell Saneto, Nourelhoda A. Haridy, Pinar Ozkan Kart, Ali Cansu, Madeleine Joubert, Claire Beneteau, Kyra E. Stuurman, Martina Wilke, Tahsin Stefan Barakat, Homa Tajsharghi, Annarita Scardamaglia, Sadeq Vallian, Semra Hız, Ali Shoeibi, Reza Boostani, Narges Hashemi, Meisam Babaei, Norah Saleh Alsaleh, Julie Porter, Tania Attié‐Bitach, Pauline Marzin, Dorota Wicher, Jessica I. Gold, Elisabeth Schuler, Amna Kashgari, Rakan F. Alanazi, Wafaa Eyaid, Marc Engelen, Mirjam Langeveld, Burkhard Stüve, Yun Li, Gökhan Yigit, Bernd Wollnik, Mariana H.G Monje, Dimitri Krainc, Niccolò E. Mencacci, Somayeh Bakhtiari, Michael Kruer, Emanuela Argilli, Elliott Sherr, Yalda Jamshidi, Ehsan Ghayoor Karimiani, Yiu Wing Sunny Cheung, Ivan Karin, Giovanni Zifarelli, Peter Bauer, Wendy K Chung, James R. Lupski, Manju A. Kurian, Jörg Dötsch, Jürgen‐Christoph von Kleist‐Retzow, Thomas Klopstock, Matias Wagner, Calvin Yip, Andreas Roos, Rita Carsetti, Carlo Dionisi‐Vici, Mathias Gautel, Michael R Duchen, Adam Antebi, Henry Houlden, Manolis Fanto, Heinz Jungbluth   +140 more
wiley   +1 more source

Comprehensive analysis of aberrant alternative splicing and RNA binding proteins associated with age-related sensorineural hearing loss. [PDF]

Sci Rep
Yu W, Qin Z, Liang X, Zhu X, Tan G, Ren B, Xiang Y, Zou C, Zhou X, Wang H, Deng A.   +10 more
europepmc   +1 more source

Ototoxicity in Cancer Therapies

Oral Diseases, EarlyView.
Sady Selaimen da Costa, Nathaniel S. Treister, Caio Eddie de Melo Alves   +2 more
wiley   +1 more source

Type 2 Diabetes Mellitus and Hearing Loss: A Prisma Systematic Review and Meta‐Analysis

Otolaryngology–Head and Neck Surgery, Volume 173, Issue 5, Page 1041-1053, November 2025.
Abstract Objective To conduct a systematic review and meta‐analysis to assess the association between type 2 diabetes and hearing loss. Data Sources Search conducted in PubMed and Scopus databases for articles published between January 2019 and April 2024.
Miguel Caballero‐Borrego, Ivan Andujar‐Lara   +1 more
wiley   +1 more source

Biallelic MINAR2 variant is associated with nonsyndromic severe to profound sensorineural hearing loss. [PDF]

Hum Genome Var
Almontashiri NAM.
europepmc   +1 more source

Bilateral Enlarged Vestibular Aqueduct: Auditory, Genetic and Radiological Characterization, and Benefits of Cochlear Implants

Otolaryngology–Head and Neck Surgery, Volume 173, Issue 5, Page 1215-1227, November 2025.
Abstract Objective The study aimed to describe the auditory phenotype of patients with bilateral enlarged vestibular aqueduct, including benefits of cochlear implantation, and to look for genotype‐phenotype correlation. Study Design Retrospective single‐center study. Setting Tertiary adult reference center.
Augustin Vigouroux, Benjamin Glemain, Renato Torres, Laurence Jonard, Natalie Loundon, Evelyne Ferrary, Isabelle Mosnier, Hannah Daoudi, Sandrine Marlin, Ghizlene Lahlou   +9 more
wiley   +1 more source

Optical coherence tomography angiography findings in patients with sudden sensorineural hearing loss. [PDF]

Sci Rep
Kim J, Kwon HJ, Lee JJ, Lee S, Oh SJ, Choi SW.   +5 more
europepmc   +1 more source

Neutrophils at the Maternal‐Fetal Interface: Agents of Protection or Destruction?

American Journal of Reproductive Immunology, Volume 94, Issue 5, November 2025.
ABSTRACT Neutrophils, traditionally recognized for their role in innate immunity, have emerged as a key cell population at the maternal‐fetal interface, during both uncomplicated and pathological pregnancies. Neutrophil effector functions, including phagocytosis, neutrophil extracellular trap formation, and degranulation, can play protective roles ...
Sallie L. Fell, Sydney M. Nemphos, James E. Prusak, Amitinder Kaur, Jamie O. Lo, Jennifer A. Manuzak   +5 more
wiley   +1 more source

Large Vestibular Aqueduct Syndrome Causing Progressive Hearing Loss in Childhood Article

Pakistan Journal of Medicine and Dentistry
Background: Sensorineural hearing loss in adults is commonly associated with aging, trauma or autoimmune disease. In children, however, sensorineural hearing loss can also be due to genetic causes, leading to malformation of internal ear structures ...
Salman Baig, Sana Ansari, Nash Patel, Nial Considine   +3 more
doaj