Results 101 to 110 of about 38,696 (225)

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

Clinical Genetics, Volume 110, Issue 6, Page 736-741, December 2026.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady, Hadar Hulin Ma'ayan, Michal Cohen, Karin Weiss   +3 more
wiley   +1 more source

Loss of proton‐sensing TDAG8 increases tumor progression in mouse models of colon cancer

Molecular Oncology, Volume 20, Issue 11, Page 2656-2673, November 2026.
Loss of the pH‐sensing receptor TDAG8 accelerates colorectal cancer progression in mice. Animals lacking TDAG8 expression had increased tumor growth, DNA damage, and recruitment of tumor‐associated immune cells, including macrophages, neutrophils, and monocytes.
Ermanno Malagola, Yasmine Illi, Anna Bircher, Marijn Wilmink, Rachele F. Malagutti, Solenn Ottié, Cordelia Schuler, Pedro A. Ruiz, Cheryl de Vallière, Klaus Seuwen, Gerhard Rogler, Martin Hausmann   +11 more
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2409-2419, November 2026.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Hemophagocytic Lymphohistiocytosis in a Patient With Alcohol‐Associated Liver Disease: A Case Report Highlighting Diagnostic Challenges

Clinical Case Reports, Volume 14, Issue 11, November 2026.
ABSTRACT Hemophagocytic lymphohistiocytosis (HLH) is a life‐threatening hyperinflammatory syndrome with nonspecific clinical manifestations that can mimic common conditions in patients with alcohol dependence. Early clinical suspicion and rapid initiation of treatment are essential to prevent fatal outcomes.
Adalis Rivera, Hakan R. Toka, Yasser Samra, Aleena Khan, Kathryn Bower   +4 more
wiley   +1 more source

Immune Checkpoint Inhibitor‐Induced Diabetic Ketoacidosis in a Patient With Pre‐Existing Type 2 Diabetes: A Case Report

Clinical Case Reports, Volume 14, Issue 11, November 2026.
ABSTRACT Immune checkpoint inhibitors (ICIs) may cause rare life‐threatening ICI‐associated diabetes mellitus. We report a 60‐year‐old Chinese male with pre‐existing type 2 diabetes who developed toripalimab‐induced diabetic ketoacidosis after 3 treatment cycles. He also had toripalimab‐related hyperthyroidism.
Lingfen Zeng, Jieming Sun
wiley   +1 more source

Preliminary Evidence Suggests the Transcriptomic Response of Tricolored Bats to White‐Nose Syndrome Is Similar but Not Identical to That of Little Brown Bats

Ecology and Evolution, Volume 16, Issue 11, November 2026.
In this study, we evaluate gene expression of tricolored bats in response to white‐nose syndrome and compare it to that of little brown bats. We found that tricolored bats show evidence of a similar transcriptomic immune response to little brown bats, sharing pathways and some genes.
Robert E. Kwait, Evan A. Eskew, Maanasvi Balasubramanian, Sarah A. Gignoux‐Wolfsohn, Malin L. Pinsky, Brooke Maslo   +5 more
wiley   +1 more source

Gene‐Guided Therapy in Type 2 Diabetes Mellitus: An Integrative Review of the Pharmacogenetics of Metformin and Sodium‐Glucose Cotransporter‐2 Inhibitors

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 6, November 2026.
Genetic variation influences the pharmacological response to metformin and SGLT2 inhibitors in patients with type 2 diabetes mellitus. Pharmacogenetic biomarkers affecting drug transport, metabolism and target activity contribute to inter‐individual differences in treatment efficacy and adverse effects, supporting the implementation of personalized ...
Imran Hossain, Mahnoor Haidar, Mahfuj Ahmed Ratul, Jannatul Ferdous Sumona, Sraboni Shabnaz, Abul Fojal Nokib, Fatema‐Tuz‐Zohora   +6 more
wiley   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl‐tRNA Synthetase Deficiencies

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Aminoacyl‐tRNA synthetases (ARSs) facilitate the loading of transfer RNAs with their cognate amino acids in the cytosol (ARS1), mitochondria (ARS2), or both (dual ARS). ARS deficiencies are clinically heterogeneous and can cause severe, occasionally fatal disease.
I. J. J. Muffels, G. Kok, Z. Tang, L. S. Medeiros, F. O. Poswar, W. P. Vermeij, R. Rodenburg, K. Smit, S. K. Sukumaran, S. B. Wortmann, L. Averdunk, J. Munch, J. Pak‐lam Ho, A. M. K. Kwok, E. E. S. Nieuwenhuis, P. M. van Hasselt, I. V. D. Schwartz, C. M. A. Lubout, A. M. Bosch, K. Koop, E. M. M. Hoytema van Konijnenburg, S. A. Fuchs   +21 more
wiley   +1 more source

An Acidic Tubulointerstitial Microenvironment Delays Cell-Cycle Progression in Proximal Tubule Cells and Fibroblasts and Synergizes With Lactate to Drive Phenotypic Alterations. [PDF]

Acta Physiol (Oxf)
Schulz MC, Dubourg V, Schaude L, Schröder N, Janßen E, Görlich I, Ruhs S, Kopf M, Gekle M.   +8 more
europepmc   +1 more source