Results 81 to 90 of about 29,474 (200)

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR ‐Gene Family

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1286-1305, June 2026.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source

Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene

Scientific Reports
Sequence variants in Eyes Shut Homolog (EYS) gene are one of the most frequent causes of autosomal recessive retinitis pigmentosa (RP). Herein, we describe an Italian RP family characterized by EYS-related pseudodominant inheritance.
Enzo Di Iorio, Ginevra Giovanna Adamo, Ugo Sorrentino, Katia De Nadai, Vanessa Barbaro, Marco Mura, Marco Pellegrini, Francesca Boaretto, Marco Tavolato, Agnese Suppiej, Francesco Nasini, Leonardo Salviati, Francesco Parmeggiani   +12 more
doaj   +1 more source

Frequency of nystagmus in retinitis pigmentosa patients

Journal of the Pakistan Medical Association
Objective: To determine the frequency of nystagmus experienced by patients with retinitis pigmentosa. Method: The descriptive study was conducted at the University of Lahore Teaching Hospital, Lahore, Pakistan, from May to August 2024, and comprised ...
Maryam Hameed, Maryam Mansha , Maham Shabir , Maryam Iftikhar , Usama Elahi, Mawra Zahid   +5 more
doaj   +1 more source

Targeting Mitochondria in Aging‐Related Diseases: Therapeutic Potential and Obstacles

MedComm, Volume 7, Issue 6, June 2026.
This article systematically summarized the specific mechanism of aging‐related diseases caused by mitochondrial dysfunction, and summarized the broad‐spectrum treatment methods and disease targeted treatment strategies for mitochondria. At the same time, it also pointed out the dilemma faced by mitochondrial targeted treatment.
Zijie Xiang, Yu Chen, Xishui Liu, Haowen Lu, Yuqing Yang, Lei Xing, Yu Zhang, Chuandong Lang, Siming Zhang, Shixiang Zhao, Youzhi Hong, Jiaxiang Bai, Yusen Qiao   +12 more
wiley   +1 more source

A Preliminary Open‐Label Pilot Study of a Pillow‐Based ELF‐ELME (Extremely Low‐Frequency, Extremely Low Magnetic Environment) Intervention for Major Depressive Disorder

Neuropsychopharmacology Reports, Volume 46, Issue 2, June 2026.
Mitochondrial dysfunction is implicated in depression, and a pillow‐based ELF‐ELME device for nighttime use improved depressive symptoms in a preliminary 8‐week open‐label study of MDD without adverse events. This non‐invasive intervention may offer a safe and feasible adjunctive treatment option.
Ibuki Tomita, Masako Tachibana, Yoshihiro Nawa, Mikako Ito, Fumie Kinoshita, Yachiyo Kuwatsuka, Daisuke Mori, Masashi Ikeda, Kinji Ohno, Toshiya Inada   +9 more
wiley   +1 more source

Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome

The Journal of Pathology, Volume 269, Issue 2, Page 222-231, June 2026.
Abstract MYO7A is a causal gene, underlying Usher syndrome type 1B (USH1B) and both autosomal recessive (DFNB2) and dominant (DFNA11) non‐syndromic hearing loss. Despite the large number of reported MYO7A variants (over 2,200), variants located in an extended splice region remain difficult to interpret and are often classified as variants of uncertain ...
Tao Shi, Yu Huang, Xiaohuan Su, Lisheng Yu, Yixin Zhao, Jing Cheng   +5 more
wiley   +1 more source

Roles of ER Membrane Protein Complex in Protein Biogenesis and Quality Control in the Lung and Beyond

Cell Proliferation, Volume 59, Issue 6, June 2026.
The endoplasmic reticulum membrane protein complex (EMC) is an evolutionarily conserved, multi‐subunit transmembrane protein complex crucial to membrane protein biogenesis and cellular protein quality control. This review systematically examines the structure, functions and disease‐associated regulatory mechanisms of EMC across multiple organ systems ...
Yan Qiao, Yuqing Sun, Yutao Huang, Qinghang Meng, Xinhua Lin, Wei Wei, Xiaofang Tang   +6 more
wiley   +1 more source

Case Report: Effective management of acute corneal hydrops with concurrent nystagmus and retinitis pigmentosa: combination of deep lamellar corneal suturing and anterior chamber gas injection

Frontiers in Medicine
BackgroundSummarizing the clinical management and prognosis of acute corneal hydrops complicated by nystagmus and retinitis pigmentosa, this study provides a reference for the diagnosis and treatment of similar rare cases.Case presentationRetrospective ...
Ying Zhou, Abudusataer Aishan, YanChuan Yang, Xia Li   +3 more
doaj   +1 more source

Next‐Generation Strategies for Neural Repair and Regeneration: Neural Organoid Transplantation in the CNS

Cell Proliferation, Volume 59, Issue 6, June 2026.
Neurological disorders are hard to treat. Stem cell‐derived neural organoids enable research, and their transplantation aids CNS therapy, with this article reviewing relevant advances, challenges and prospects. ABSTRACT Neurological disorders are often devastating and notoriously difficult to repair, creating an urgent need for novel research models ...
Yutong Wang, Jinrui Li, Xingjia Mao, Wanyu Wang, Yansong Li, Xuefei Hu, Jinjie Zhong, Fengdong Zhao, Linlin Wang   +8 more
wiley   +1 more source

Allergic Contact Dermatitis From Dorzolamide Without Cross‐Reactivity to Brinzolamide

Contact Dermatitis, Volume 95, Issue 1, Page 116-117, July 2026.
Elias Ghozli, Camille Leleu, Louis Arnould, Louise Collin, Evelyne Collet   +4 more
wiley   +1 more source