Results 181 to 190 of about 385,840 (284)

Mechanisms and Predisposing Conditions for Statin‐Induced New‐Onset Type 2 Diabetes Mellitus: A Paradox Relative to Their Pleiotropic Metabolic Effects

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.
The primary function of statins is to inhibit cholesterol synthesis, which contributes to their antidiabetic effects. However, the majority of the diabetic effects of statins are due to inhibition of isoprenoid synthesis. Atorvastatin, simvastatin and rosuvastatin possess the most pronounced diabetogenic properties. In contrast, lovastatin, fluvastatin,
Ali Nosrati Andevari, Mohsen Koolivand
wiley   +1 more source

A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia. [PDF]

Nature
Jacobs J, Lyubenova H, Potelle S, Kopp J, Gerin I, Chan WL, Rodriguez de Los Santos M, Hülsemann W, Mensah MA, Cormier-Daire V, Joosten M, Bruggenwirth HT, Stuurman KE, Miranda V, Campeau PM, Wittler L, Graff J, Mundlos S, Ibrahim DM, Van Schaftingen E, Fischer-Zirnsak B, Kornak U, Ehmke N, Bommer GT.   +23 more
europepmc   +1 more source

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

Epilepsia, Volume 67, Issue 9, Page 4907-4921, September 2026.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann   +13 more
wiley   +1 more source

The intracellular localization and the ionic permeation of TRPV6 triggers chronic pancreatitis, skeletal dysplasia and is connected to mucolipidosis type II. [PDF]

Cell Commun Signal
Fecher-Trost C, Gehl AL, Trunk A, Hellmich J, Wesely C, Löhr H, Buchholz S, Cole M, Beck A, Meyer MR, Wissenbach U.   +10 more
europepmc   +1 more source

Insights into ANKRD11‐related epilepsy from 163 people

Epilepsia, Volume 67, Issue 9, Page 4922-4938, September 2026.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su, Jian Ma, Qi Zhang, Wandong Hu, Ying Ren, Wenchao Zhang, Hongwei Zhang   +6 more
wiley   +1 more source

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia. [PDF]

J Clin Invest
Masson A, Paccaud J, Orefice M, Colin E, Mäkitie O, Cormier-Daire V, Relator R, Ghosh S, Strub JM, Schaeffer-Reiss C, Marcelis C, Koolen DA, Pfundt R, de Boer E, Vissers LE, Gardeitchik T, Aarts LA, Rinne T, Terhal PA, Verbeek NE, Zuurbier LC, Plomp AS, Wessels MW, de Man SA, Bouman A, Bird LM, Saadeh-Haddad R, Guillen Sacoto MJ, Person R, Gooch C, Hurst AC, Thompson ML, Hiatt SM, Littlejohn RO, Roeder ER, Mori M, Hickey SE, Hunter JM, Lee K, Osman K, Halloun R, Bachmann-Gagescu R, Rauch A, Wieczorek D, Platzer K, Luppe J, Duplomb-Jego L, El It F, Duffourd Y, Tran Mau-Them F, Huber C, Gordon CT, Taylan F, Mäkitie RE, Costantini A, Valta H, Robertson S, Poke G, Francoise M, Ciolfi A, Tartaglia M, Ekhilevitch N, Zaid R, Levy MA, Kerkhof J, McConkey H, Delanne J, Chevarin M, Vautrot V, Bourgeois V, Nguyen S, Marle N, Callier P, Safraou H, Morgan A, Amor DJ, Hildebrand MS, Coman D, Aubert Mucca M, Thevenon J, Laffargue F, Bilan F, Pebrel-Richard C, Yoon G, Axford MM, Pérez-Jurado LA, Sevilla-Porras M, Black DL, Philippe C, Sadikovic B, Thauvin-Robinet C, Olivier-Faivre L, Ori M, Thomas Q, Vitobello A.   +94 more
europepmc   +1 more source

Integrative Transcriptomic Analysis and Functional Validation Implicate GPT2 in Glycolytic Regulation in Polycystic Ovary Syndrome

Food Science &Nutrition, Volume 14, Issue 9, September 2026.
Integrating GEO transcriptomic datasets, machine‐learning algorithms, GSVA, multilayer regulatory network and immune infiltration analyses, this study revealed metabolic‐immune disturbance and aberrant ovarian steroidogenesis in polycystic ovary syndrome (PCOS).
Meili Xi, Rongkui Luo, Jiarong Zhang, Weihong Huang, Li Ma, Yunyan Sun, Aimin Ren   +6 more
wiley   +1 more source

Identification of a Novel Homozygous <i>IHH</i> Variant Causing Novel Acromesomelic Maroteaux-Type Skeletal Dysplasia in a Pakistani Family. [PDF]

Balkan J Med Genet
Hanif M, Ahmad B, Farman S, Hassan S, Hayat A, Bibi N, Kalsoom U, Khan B.   +7 more
europepmc   +1 more source

Skeletal dysplasias. [PDF]

BMJ, 1987
openaire   +2 more sources

Lonicerae Japonicae Flos as a Dietary Natural Product: Bioactive Constituents, Gut Health Modulation, and Therapeutic Potential in Ulcerative Colitis and Colorectal Cancer

Food Science &Nutrition, Volume 14, Issue 9, September 2026.
Bioactive constituents, mechanisms of action, and potential applications of Lonicerae Japonicae Flos as a dietary natural product for promoting gut health and managing ulcerative colitis and colorectal cancer. ABSTRACT Lonicerae Japonicae Flos (LJF), a traditional Chinese herb with applications in both medicine and nutrition, has emerged as a promising
Xiaoyu Huang, Letian Zhang, Zenghui Shi, Ni Zhu, Yifei Liu, Yanhong Zhou   +5 more
wiley   +1 more source