Results 71 to 80 of about 33,870 (219)

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

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies [PDF]

, 2018
Inherited retinal diseases (IRD) are a heterogeneous group of diseases that mainly affect the retina; more than 250 genes have been linked to the disease and more than 20 different clinical phenotypes have been described.
Anasagasti, Ander, Barandika, Olatz, Ezquerra-Inchausti, Maitane, Galdós, Marta, Garai-Aramburu, Gonzaga, Irigoyen, Cristina, López de Munain Arregui, Adolfo José, Ruiz-Ederra, Javier   +7 more
core   +4 more sources

Redox Regulation and Oxidative Stress in Health and Disease: Mechanisms and Therapeutic Targeting

MedComm – Future Medicine, Volume 5, Issue 2, June 2026.
Reactive species serve crucial roles which are tightly regulated in both physiological as well as disease states. At physiological levels, these species are integral to redox signaling, while uncontrolled redox promotes disease pathology. This review examines the dysregulation of these processes.
Mohammad Hossein Azadi, Azadeh Niknejad, Elaheh Amini   +2 more
wiley   +1 more source

Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa

BMC Ophthalmology, 2022
Background Usher syndrome (USH) is an autosomal recessive disorder primarily responsible for deaf-blindness. Patients with subtype Usher syndrome type 1 (USH1) typically experience congenital sensorineural hearing loss, abnormal vestibular function, and ...
Nelson Chen, Hane Lee, Angela H. Kim, Pei-Kang Liu, Eugene Yu-Chuan Kang, Yun-Ju Tseng, Go Hun Seo, Rin Khang, Laura Liu, Kuan-Jen Chen, We-Chi Wu, Meng-Chang Hsiao, Nan-Kai Wang   +12 more
doaj   +1 more source

Development and disease of the photoreceptor cilium [PDF]

, 2009
Primary cilia are microtubule-rich hair-like extensions protruding from the surface of most post-mitotic cells. They act as sensory organelles that help interpret various environmental cues.
Adams, Apfeld, Arikawa, Arts, Baker, Barnes, Blacque, Blacque, Boon, Cole, Cole, Connell, Davenport, Davis, Fliegauf, Gao, Goldberg, Hartong, Hong, Humphries, Insinna, Insinna, Jansen, Jimeno, Kozminski, Krock, Leroux, Liu, Liu, Liu, Marszalek, Moore, Moritz, Nachury, Nir, Ou, Pazour, Pedersen, Reiners, Roepman, Sanyal, Sukumaran, Tobin, Travis, Weil, Williams, Wright, Young, Zhao   +48 more
core   +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

A Type 2 Diabetes Policy Model That Predicts Remaining Life Expectancy, Quality‐Adjusted Life Expectancy and Healthcare Costs for Use in Economic Evaluation, Incorporating Equity Concerns

Diabetes, Obesity and Metabolism, Volume 28, Issue 6, Page 4772-4783, June 2026.
ABSTRACT Aims To illustrate a T2DM policy model incorporating socio‐economic status. Materials and Methods Using the Scottish Diabetes Research Network (SDRN) national diabetes cohort, we identified individuals newly diagnosed with T2DM between 1 January 2004 and 31 December 2020 and followed from diagnosis until death or end of follow‐up.
Lili Wei, Houra Haghpanahan, Sarah H. Wild, Claudia Geue, Elaine Butterly, Peter McMeekin, Stuart McGurnaghan, Luke A. K. Blackbourn, Robert Lindsay, David McAllister, Jim Lewsey   +10 more
wiley   +1 more source

New and emerging technologies for the treatment of inherited retinal diseases: a horizon scanning review. [PDF]

, 2015
The horizon scanning review aimed to identify new and emerging technologies in development that have the potential to slow or stop disease progression and/or reverse sight loss in people with inherited retinal diseases (IRDs).
Michaelides, M, Moore, AT, Simpson, S, Smith, J, Ward, D   +4 more
core  

Homoisoflavonoids—From Natural Specificity and Biosynthesis to Precision Health‐Promoting Mechanisms

Food Frontiers, Volume 7, Issue 3, May 2026.
Homoisoflavonoids are rare flavonoids with a unique bi‐aromatic oxygen‐heterocyclic structure. This review synthesizes their structure–activity relationships in anti‐inflammatory, hypoglycemic, and anticancer contexts. By highlighting their specific natural distribution and outlining biosynthetic pathways, it provides a conceptual framework and ...
Jing Zhang, Han Chen, Jinping Si, Zhigang Han, Xinfeng Zhang   +4 more
wiley   +1 more source

Illness perceptions in irritable bowel syndrome: change over time and relationship with self-reported quality of life [PDF]

, 2014
Background: Pathways in an ‘extended’ common-sense model of illness representations (CSM) were examined in those affected by Irritable Bowel Syndrome (IBS) over time. As complementary and alternative medicine (CAM) use is extensive in IBS, participants
Fox, Pauline, Mitchell, Kathryn, Usher, Lee   +2 more
core   +1 more source