Results 101 to 110 of about 2,447,712 (252)

The promoter regions of intellectual disability-associated genes are uniquely enriched in LTR sequences of the MEr41 primate-specific endogenous retrovirus: An evolutionary connection between immunity and cognition [PDF]

, 2019
The Supplementary Material for this article can be found online at: https://www.frontiersin.org/articles/10.3389/fgene.2019.00321/full#supplementary-materialSocial behavior and neuronal connectivity in rodents have been shown to be shaped by the ...
Benítez Burraco, Antonio, Nataf, Serge, Uriagereka, Juan   +2 more
core   +6 more sources

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

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy [PDF]

, 2019
TRIM32 is a E3 ubiquitin -ligase containing RING, B-box, coiled-coil and six C-terminal NHL domains. Mutations involving NHL and coiled-coil domains result in a pure myopathy (LGMD2H/STM) while the only described mutation in the B-box domain is ...
Adams, A. M., Cabrera Serrano, Macarena, Carvajal, A., Dyke, J.M, Fernández García, M. A., Fletcher, S., Junckerstorff, R., Laing, N. G., Lamont, P.J., Mavillard Saborido, Fabiola, Nieto González, José Luis, Paradas, Carmen, Pelayo Negro, A. L., Ravenscroft, G., Rivas, Eloy, Servián Morilla, Emilia   +15 more
core   +1 more source

Coping with the challenges of caregiving: A qualitative exploration of the experiences of family caregivers of children with rare diseases in South Africa

Journal of Genetic Counseling, Volume 35, Issue 2, April 2026.
Abstract Rare diseases are a group of chronic conditions with low individual prevalence. These conditions predominantly affect children and severely impact their lives. Oftentimes, children with rare diseases receive care from family caregivers, who experience several challenges in their roles and regularly struggle to cope with caregiving demands ...
Jodie van Niekerk, Marianne Gush, Shahida Moosa, Chrisma Pretorius   +3 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

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +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  

Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease [PDF]

, 2017
The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein related to the Sonic hedgehog receptor, Patched, and involved in intracellular trafficking of ...
Canterini, Sonia, Dardis, Andrea, DE STEFANO, Maria Egle, Dragotto, Jessica, Erickson, Robert P., Fiorenza, Maria Teresa, Mangia, Franco, Zampieri, Stefania   +7 more
core   +1 more source

Joint TOS/OMA/OAC Expert Guidance Statement on the Pharmacological Management of United States Adults With Overweight or Obesity Using the GRADE Approach

Obesity, Volume 34, Issue 4, Page 851-870, April 2026.
Guidance recommendations by TOS/OMA/OAC for the use of obesity medications to treat obesity and its complications. ABSTRACT Background Obesity affects over 40% of US adults, with severe obesity on the rise. Despite recognition of obesity as a chronic disease, it remains underdiagnosed and undertreated.
Lydia Alexander, Jonathan Q. Purnell, Karlijn Burridge, Marc‐André Cornier, Angela Golden, Deborah Bade Horn, Michelle Look, Joe Nadglowski, Camila Ávila‐Oliver, Francisco Novillo, Ana María Rojas‐Gómez, Brad Hussey, Ximena Ramos Salas   +12 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