Results 51 to 60 of about 6,135 (164)

Use of Glucagon‐Like Peptide‐1 Receptor Agonists in Danish Adolescents and Young Adults 2018–2025

Obesity, Volume 34, Issue 8, Page 1551-1557, August 2026.
ABSTRACT Objective Use of glucagon‐like peptide‐1 receptor agonists (GLP‐1RAs) has increased rapidly following approval for obesity treatment, but data on their use in younger populations remain limited. We examined trends in GLP‐1RA use among 12– to 24‐year‐olds in Denmark during 2018–2025.
Helene Kildegaard, Jacob Harbo Andersen, Rebecca Kofod Vinding, Julie Tonsgaard Kloppenborg, Anton Pottegård   +4 more
wiley   +1 more source

Phenotypic Expansion and Molecular Implications in Recessive FUZ ‐Related Ciliopathy

Clinical Genetics, Volume 110, Issue 2, Page 236-241, August 2026.
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa, Shota Kato, Kazuhiro Shiraga, Motohiro Kato, Ryo Inuzuka   +4 more
wiley   +1 more source

Primary cilia–extracellular vesicle crosstalk in Alzheimer's disease: Emerging mechanisms and biomarker potential

Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.
Abstract Alzheimer's disease (AD) is a neurodegenerative condition marked by cognitive decline and synaptic issues. Recent studies show primary cilia (PCs), sensory organelles present on the surface of most mammalian cells, act as a critical regulators of brain homeostasis and signaling.
Vishal Singh Guleria, Charisse N. Winston   +1 more
wiley   +1 more source

A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome

Biomédica: revista del Instituto Nacional de Salud, 2018
The Bardet-Biedl syndrome is an autosomal recessive hereditary disorder with vast locus heterogeneity that belongs to the so-called ciliopathies, whose proteins are localized in the primary cilia and present functional deficiency.
Luz Yaqueline Ladino, Johanna Galvis, Diana Yasnó, Adriana Ramírez, Orietta Ivonne Beltrán   +4 more
doaj   +1 more source

ABCA4‐Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and Characterization of Potentially Novel Variants

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This study reports the documented case of ABCA4‐associated early‐onset severe retinal dystrophy in China, broadens the mutational spectrum of ABCA4 in this population, and highlights distinct genotype–phenotype correlations that may inform clinical management and genetic counseling.
Nian Li, Linlin Su, Yue Ren, Ye Liu, Jiayuan Ge, Henan Sun, Zhuoshi Wang   +6 more
wiley   +1 more source

Manifestations of Bardet-Biedl syndrome

Philippine Journal of Ophthalmology, 2004
Objective: To report the first documented case of Bardet-Biedl syndrome at the University of the Philippines Philippine General Hospital. Methods: This is a case report. Results: A 7-year-old boy was diagnosed to have Bardet-Biedl syndrome based on
Kristine T. Lo, MD, Juancho Remulla, MD, Alvina Pauline Santiago, MD   +2 more
doaj  

Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet–Biedl syndrome

Frontiers in Genetics
IntroductionBardet–Biedl syndrome is a rare condition characterized by obesity, retinitis pigmentosa, polydactyly, development delay, and structural kidney anomalies. This syndrome has an autosomal recessive type of inheritance.
M. Orlova, P. Gundorova, V. Kadnikova, A. Polyakov   +3 more
doaj   +1 more source

A Genotype–Phenotype Analysis of the Bardet–Biedl Syndrome in Puerto Rico

Clinical Ophthalmology, 2021
Gabriel A Guardiola,1 Fabiola Ramos,2 Natalio J Izquierdo,3 Armando L Oliver2 1Department of Medicine, Universidad Central del Caribe School of Medicine, Bayamon, PR, USA; 2Department of Ophthalmology, University of Puerto Rico School of Medicine ...
Guardiola GA, Ramos F, Izquierdo NJ, Oliver AL   +3 more
doaj  

Prenatal Etiology Diagnosis of Rare Compound Heterozygous PROC Gene Variants in a Fetus With Ocular Ultrasonic Anomaly Using Whole Exome Sequencing

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This study first describes two rare compound heterozygous variants in PROC gene in a Chinese individual, which may broaden the mutation spectrum of thrombophilia due to protein C deficiency. ABSTRACT Background This study aims to present novel compound heterozygous PROC gene variants in a fetus.
Jianlong Zhuang, Nan Huang, Ling Gu, Wanyu Fu   +3 more
wiley   +1 more source

Smoking‐Related Clinical and Molecular Abnormalities in Idiopathic Pulmonary Fibrosis—Associated Pulmonary Hypertension

Pulmonary Circulation, Volume 16, Issue 3, July 2026.
ABSTRACT Pulmonary hypertension (PH) is a frequent complication of interstitial lung diseases (ILD) that worsens morbidity and mortality. Cigarette smoking has a detrimental effect on transplant‐free survival of patients with ILD, including patients with idiopathic pulmonary fibrosis (IPF).
Iryna Zhyvylo, Namita Sood, Janelle Vu Pugashetti, Angela L. Linderholm, Ssu‐Wei Hsu, Justin Oldham, Ching‐Hsien Chen, Elena A. Goncharova   +7 more
wiley   +1 more source