Results 1 to 10 of about 11,932 (230)

Case series: Joubert syndrome and eosinophilic esophagitis

JPGN Reports, Volume 7, Issue 2, Page 329-331, May 2026.
Abstract Joubert syndrome (JS) is a rare genetic disorder characterized by developmental abnormalities, particularly in the brainstem and cerebellar vermis, alongside multisystem manifestations such as kidney and liver anomalies, polydactyly, cleft lip or palate, and tongue defects.
Jonathon Schening, Stephanie Leon‐Paredes, Eric Chiou, Vibha Szafron, Anthony Olive, Sara Anvari   +5 more
wiley   +1 more source

Pathways to enhancing prenatal diagnosis of skeletal dysplasias

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang, Christina Jacobsen, Jennifer Arnold, Ronald J. Wapner, Deborah Krakow   +4 more
wiley   +1 more source

Serum Proteomic Analysis Using Gel‐Based Liquid Chromatography Tandem Mass Spectrometry Reveals Differences Between Canine Oral Malignancies and Non‐Malignant Conditions

Veterinary Medicine and Science, Volume 12, Issue 3, May 2026.
This study establishes a GeLC‐MS/MS‐based serum proteomics workflow for canine oral oncology to differentiate malignancies from non‐malignant conditions. Comprehensive protein profiling, pathway analysis and protein–drug interaction mapping reveal candidate biomarkers and insights into the pathogenesis of canine oral cancers.
Sekkarin Ploypetch, Sittiruk Roytrakul, Janthima Jaresitthikunchai, Narumon Phaonakrop, Gunnaporn Suriyaphol   +4 more
wiley   +1 more source

Shaping the sound of voice

eLife, 2017
The proper development of the vocal cords requires embryos to contain a certain number of progenitor cells, and mutations that lead to an overflow of cells can cause malformations of the voice box.
Ralph Marcucio
doaj   +1 more source

Melanocortin 3 Receptors Do Not Specifically Localize to Primary Cilia in Cultured Human and Rodent Neurons

Cell Biochemistry and Function, Volume 44, Issue 4, April 2026.
ABSTRACT The melanocortin‐3 receptor (MC3R) and the melanocortin‐4 receptor (MC4R), both expressed in hypothalamic nuclei, are key downstream effectors of leptin signaling and play important roles in energy homeostasis. While pathogenic variants in the MC4R gene represent the most common cause of monogenic obesity, the clinical significance of MC3R ...
Niels Vos, Alessandro Moro, Wim Van Hul, Lotte Kleinendorst, Ralph J. Florijn, Susanne E. la Fleur, Matthijs Verhage, Mieke M. van Haelst, Ruud F. Toonen   +8 more
wiley   +1 more source

Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies

Frontiers in Pediatrics, 2017
Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10,000 to 1:20,000 live-born children, but true prevalence could be even ...
Virginia Mirra, Virginia Mirra, Claudius Werner, Francesca Santamaria, Francesca Santamaria   +4 more
doaj   +1 more source

Post‐Translational Modifications in Cilia and Ciliopathies

Advanced Science
Cilia are microtubule‐based organelles that extend from the surface of most vertebrate cells, and they play important roles in diverse cellular processes during embryonic development and tissue homeostasis.
Jie Ran, Jun Zhou
doaj   +1 more source

Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome

Frontiers in Genetics, 2019
Bardet-Biedl syndrome (BBS; MIM 209900) is a rare ciliopathy characterized by retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, cognitive impairment and kidney dysfunction.
Elise Schaefer, Elise Schaefer, Clarisse Delvallée, Laura Mary, Corinne Stoetzel, Véronique Geoffroy, Caroline Marks-Delesalle, Muriel Holder-Espinasse, Jamal Ghoumid, Hélène Dollfus, Hélène Dollfus, Jean Muller, Jean Muller   +12 more
doaj   +1 more source

A family of congenital hepatic fibrosis and atypical retinitis pigmentosa

Clinics and Practice, 2015
Congenital hepatic fibrosis is a rare cause of portal hypertension and esophageal varices in children. We report cases of siblings with biopsy proven congenital hepatic fibrosis and with atypical retinitis pigmentosa.
Sunil Pawar, Vinay Zanwar, Ashok Mohite, Ravindra Surude, Pravin Rathi, Meenakshi Balasubramani   +5 more
doaj   +1 more source

Illumination of understudied ciliary kinases

Frontiers in Molecular Biosciences
Cilia are cellular signaling hubs. Given that human kinases are central regulators of signaling, it is not surprising that kinases are key players in cilia biology.
Raymond G. Flax, Peter Rosston, Peter Rosston, Cecilia Rocha, Brian Anderson, Jacob L. Capener, Thomas M. Durcan, David H. Drewry, David H. Drewry, Panagiotis Prinos, Alison D. Axtman   +10 more
doaj   +1 more source