Results 71 to 80 of about 9,546 (191)

Phenotypic and Genotypic Landscape of Sitosterolemia in China: Including a Rare Case With Nephronophthisis

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
This study describes the first reported case of concurrent sitosterolemia (STSL) and nephronophthisis (NPHP). Additionally, we provide a systematic review of the clinical and genetic characteristics of Chinese STSL patients, representing the largest comprehensive cohort in China to date.
Dan Ding, Hongmei Wu, Fei Zhao, Bixia Zheng, Qiuxia Chen   +4 more
wiley   +1 more source

Alström syndrome: current perspectives

The Application of Clinical Genetics, 2015
María Álvarez-Satta, Sheila Castro-Sánchez, Diana Valverde Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain Abstract: Alström syndrome (ALMS)
Álvarez-Satta M, Castro-Sánchez S, Valverde D   +2 more
doaj  

Retinal primary cilia and their dysfunction in retinal neurodegenerative diseases: beyond ciliopathies

Molecular Medicine
Primary cilia are sensory organelles that extend from the cellular membrane and are found in a wide range of cell types. Cilia possess a plethora of vital components that enable the detection and transmission of several signaling pathways, including Wnt ...
Xiaonan Liu, Anna Pacwa, Giorgia Bresciani, Marta Swierczynska, Mariola Dorecka, Adrian Smedowski   +5 more
doaj   +1 more source

A multiplex tissue resource for high‐resolution spatial protein profiling in the Human Protein Atlas

Protein Science, Volume 35, Issue 9, September 2026.
Abstract Spatially resolved protein expression is essential for understanding tissue organization, cellular specialization, and protein function. The open‐access Human Protein Atlas database (www.proteinatlas.org) has generated an extensive antibody‐based tissue resource for a majority of the human protein‐coding genes using conventional ...
Borbala Katona, Rutger Schutten, Filippa Bertilsson, Feria Hikmet, Per Adelsköld, Mattias Forsberg, Kalle von Feilitzen, Loren Méar, Mathias Uhlén, Cecilia Lindskog   +9 more
wiley   +1 more source

Photoreceptor Cilia and Retinal Ciliopathies [PDF]

Cold Spring Harbor Perspectives in Biology, 2017
Photoreceptors are sensory neurons designed to convert light stimuli into neurological responses. This process, called phototransduction, takes place in the outer segments (OS) of rod and cone photoreceptors. OS are specialized sensory cilia, with analogous structures to those present in other nonmotile cilia. Deficient morphogenesis and/or dysfunction
Kinga M, Bujakowska, Qin, Liu, Eric A, Pierce   +2 more
openaire   +2 more sources

Dysregulation of sonic hedgehog signaling causes hearing loss in ciliopathy mouse models

eLife, 2020
Defective primary cilia cause a range of diseases known as ciliopathies, including hearing loss. The etiology of hearing loss in ciliopathies, however, remains unclear.
Kyeong-Hye Moon, Ji-Hyun Ma, Hyehyun Min, Heiyeun Koo, HongKyung Kim, Hyuk Wan Ko, Jinwoong Bok   +6 more
doaj   +1 more source

Identification of novel genes regulating the development of the palate

Developmental Dynamics, Volume 255, Issue 8, Page 808-823, August 2026.
Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley   +1 more source

Using Zebrafish to Study Multiciliated Cell Development and Disease States

Cells
Multiciliated cells (MCCs) serve many important functions, including fluid propulsion and chemo- and mechanosensing. Diseases ranging from rare conditions to the recent COVID-19 global health pandemic have been linked to MCC defects. In recent years, the
Thanh Khoa Nguyen, Sophia Baker, John-Michael Rodriguez, Liana Arceri, Rebecca A. Wingert   +4 more
doaj   +1 more source

Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes

Nature Communications
Tubulinopathies and neurodevelopmental ciliopathies are two groups of genetic disorders that cause structural brain malformations. Tubulinopathies result from mutations in tubulins, the building blocks of microtubules, most of which are dominant ...
Antonio Mollica, Safia Omer, Georgiana Forguson, Sydney Steiman, Sonia L. Evagelou, Serhiy Naumenko, Susan Walker, Lu Yi Li, Aideen Teeling, Kyle Lindsay, Steven Erwood, Shagana Visuvanathan, Anjali Vig, Robert M. Vernon, Benjamin Akman, Constance Smith-Hicks, Julie D. Forman-Kay, Manohar Shroff, Vivek Pai, Rene E. Harrison, Ronald D. Cohn, Evgueni A. Ivakine   +21 more
doaj   +1 more source

Senior–Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management

Biomolecules
Senior–Loken syndrome (SLSN) is a group of rare autosomal recessive disorders caused by dysfunction of the primary cilium, primarily affecting the kidneys (typically leading to nephronophthisis) and eyes (typically leading to retinal degeneration ...
Di Zhou, Yi Zeng, Weihan Luo, Chenyang Leng, Chen Li   +4 more
doaj   +1 more source