Results 61 to 70 of about 246,741 (174)

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1261-1266, June 2026.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

Artificial iris implantation in congenital aniridia: A systematic review

, 2023
Congenital aniridia is a rare, panocular disorder with a main phenotypic characteristic of a partial or complete absence of the iris existing alongside other ocular morbidities such as cataract, keratopathy, optic nerve and foveal hypoplasia, and ...
Romano, Davide, Neil Lagali, Mauring, Laura, Rahman, Amna, Semeraro, Francesco, Romano, Vito, Amna Rahman, Laura Mauring, Barbany, Miriam, Miriam Barbany, Lagali, Neil, Bremond-Gignac, Dominique, Vito Romano, Davide Romano, Dominique Bremond-Gignac, Claus Cursiefen, Cursiefen, Claus, Francesco Semeraro   +17 more
core   +1 more source

Effects of miR-204-5p modulation on PAX6 regulation and corneal inflammation

Scientific Reports
Congenital aniridia is a rare eye disease characterized by loss of PAX6 protein leading to aniridia-associated keratopathy that significantly reduces vision.
Mojdeh Abbasi, Maryam Amini, Petros Moustardas, Quirin Gutsmiedl, Dina Javidjam, Shweta Suiwal, Berthold Seitz, Fabian N. Fries, Ava Dashti, Yedizza Rautavaara, Tanja Stachon, Nóra Szentmáry, Neil Lagali   +12 more
doaj   +1 more source

The Homeobox Genes: Classification, Regulation, Biological Functions, and Diseases

MedComm, Volume 7, Issue 4, April 2026.
Overview of the homeobox gene superfamily and its pathophysiological roles. The homeobox superfamily comprises several major classes, including ANTP, PRD, TALE, LIM, POU, and others. Among these, the HOX clusters (A–D) play critical roles in embryonic development specifically in conferring cellular identity, regulating morphogenesis, and guiding axial ...
Maedeh Dadzadi, Shahin Ramazi, Mona Darvazi, Sepideh Yoosefi, Melika Abbasi, Shirin Farsad   +5 more
wiley   +1 more source

Survival for Children Diagnosed With Wilms Tumour (2012–2022) Registered in the UK and Ireland Improving Population Outcomes for Renal Tumours of Childhood (IMPORT) Study

Pediatric Blood &Cancer, Volume 73, Issue 3, March 2026.
ABSTRACT Background The Improving Population Outcomes for Renal Tumours of childhood (IMPORT) is a prospective clinical observational study capturing detailed demographic and outcome data on children and young people diagnosed with renal tumours in the United Kingdom and the Republic of Ireland.
Naomi Ssenyonga, Angela Lopez‐Cortes, Reem Al‐Saadi, Suzanne Tugnait, Kristina Dzhuma, Catriona Duncan, Gordan Vujanic, Tanzina Chowdhury, Claudia Allemani, Michel P. Coleman, Kathy Pritchard‐Jones, the Children's Cancer and Leukaemia Group (CCLG) Renal Tumour Special Interest Group, Hugh Bishop, Anthony McCarthy, Pamela Kearns, Helen Rees, Amos Burke, Meriel Jenney, Jane Pears, Hamish Wallace, Milind Ronghe, Tanzina Chowdhury, Susan Picton, Emma Ross, Lisa Howell, Bernadette Brennan, Gail Halliday, Richard Grundy, Shaun Wilson, Sucheta Vaidya, Daniel Yeomanson, Jessica Bate, Vesna Pavasovic, Jessica Bate, Sabine Irtan, Jesper Brok, Minou Oostveen, Kristina Dzhuma, Mark Weeks, Richard Williams, Mark Powis, Max Pachl, Bruce Okoye, Naima Smeulders, Gordan Vujanic, Oystein Olsen, Tom Watson, Susan Shelmerdine, Dan Saunders, Angela Lopez-Cortes, Taryn Treger, Tom Jackson, Suzanne Tugnait, Lisa Howell, Tanzina Chowdhury, Sam Behjati, Angela Polanco   +56 more
wiley   +1 more source

An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 459-467, February 2026.
ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S. Arterbery, Anita M. Bagley, Michael A Gargano, Jeremy P Bauer, Daniel Danis, Philip Giampietro, Ellen Raney, Lauren Rekerle, Mallory Shingle, Jon R. Davids, Peter N. Robinson   +12 more
wiley   +1 more source

Effects of High Salt-Exposure on the Development of Retina and Lens in 5.5-Day Chick Embryo [PDF]

, 2014
Background/Aims: Excess maternal salt intake during pregnancy may alter fetal development. However, our knowledge on how an increased salt intake during pregnancy influences fetal eye development is limited.
Xiao-yu Wang, Manli Chuai, Guang Wang, Ma, Zheng-lai, Hocher, Berthold (Prof.), Karoline von Websky, Xuesong Yang, Chen, Yao, Wang, Guang, von Websky, Karoline, Yang, Xuesong, You-peng Chen, Chuai, Manli, Hocher, Berthold, Yao Chen, Berthold Hocher, Chen, You-peng, Wang, Xiao-yu, Zheng-lai Ma   +18 more
core   +1 more source

Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients

Orphanet Journal of Rare Diseases
Background Congenital aniridia is a rare pan-ocular disease characterized by complete irideremia, partial iridocoloboma. The progressive nature of aniridia is frequently accompanied by secondary ocular complications such as glaucoma and aniridia ...
Li Wang, Qingdan Xu, Wentao Wang, Xinghuai Sun, Yuhong Chen   +4 more
doaj   +1 more source

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH. [PDF]

PLoS ONE, 2017
Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases.
Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton   +11 more
doaj   +1 more source

Nephrotic–Nephritic Syndrome Following Unilateral Nephrectomy in Wilms Tumour in a Child

Case Reports in Nephrology, Volume 2026, Issue 1, 2026.
Background Wilms tumour (WT) represents the most frequent kidney malignant tumour in the paediatric population and is occasionally linked to specific congenital syndromes. Treatment typically includes multimodal therapy consisting of chemotherapy, surgery and/or radiotherapy (RT), with a success rate of approximately 90%.
Rawshan Zuhair Jaber, Poorani Gurumallesh Prabu   +1 more
wiley   +1 more source