Results 161 to 170 of about 2,902,010 (219)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Dapagliflozin Attenuates NKCC2 Protein Expression and Alleviates Diabetic Kidney Disease in Salt Loaded‐Hypertensive Diabetic Db/Db Mice

FASEB BioAdvances, Volume 8, Issue 10, October 2026.
In salt‐loaded, hypertensive diabetic db/db mice with diabetic kidney disease, dapagliflozin lowered blood pressure and reduced tubular and glomerular injury. Mechanistically, dapagliflozin increased cullin E3 ligase abundance, promoting degradation of NKCC2.
Zenab Shahzad, Niharika Bala, Arooba Illyas, Amir Kazory, Indra Chandrasekar, Abdel A. Alli   +5 more
wiley   +1 more source

Association of Three HIF‐1α Genotypes With Susceptibility and Severity of Chronic Kidney Disease

Clinical and Translational Science, Volume 19, Issue 10, October 2026.
ABSTRACT Hypoxic signaling is a critical factor in the pathogenesis of Chronic Kidney Disease (CKD). Hypoxia‐Inducible Factor 1 (HIF‐1) is a transcription factor that is highly expressed in the kidney and is associated with renal tubular hypoxic adaptation. Variation in the HIF‐1α subunit gene has been associated with renal pathologies.
Hanifa Aktar, Shahrzad Ashena, Mohammad Sanaei Ardekani, Shahrzad Movafagh   +3 more
wiley   +1 more source

Genetic landscape of a neonatal hypogonadotropic hypogonadism series: Novel variants and phenotypic spectrum

Journal of Neuroendocrinology, Volume 38, Issue 10, October 2026.
Abstract To describe clinical presentation and genetic findings in a cohort of infants with congenital hypogonadotropic hypogonadism (CHH) diagnosed before 2 years of age. From a large cohort of patients who underwent next‐generation sequencing (NGS) for CHH between 2019 and 2025, we identified all patients tested at ≤2 years of age.
Karine Aouchiche, Laure Van Wormhoudt, Kevin Perge, Joanne Dornberger, Cindy Colson, Marine Delagrange, Clara Leroy, Jennifer Ledmazel, Vanessa Menut, Jessica Benarrous Jaillet, Djamel Bendifallah, Mohamad Hage Chehade, Christelle Dib, Anne Barlier, Thierry Brue, Rachel Reynaud, Alexandru Saveanu   +16 more
wiley   +1 more source

Keratin 19 as a prognostic marker and contributing factor of metastasis and chemoresistance in high‐grade serous ovarian cancer

Molecular Oncology, Volume 20, Issue 9, Page 2243-2261, September 2026.
Keratin 19 (KRT19) is overexpressed in high‐grade serous ovarian cancer with high levels of Kallikrein‐related peptidases (KLK) 4–7 and is associated with poor survival. In vivo analyses demonstrate that elevated KRT19 increases peritoneal tumour burden.
Sophia Bielesch, Isabel Vogel, Sina Nokodian, Johanna Moeller, Antonia Blechschmidt, Vicky Hecht, Vanessa Kuentzel, Katharina Thiedig, Melissa Schwab, Oliver Schilling, Holger Bronger, Marion Kiechle, Viktor Magdolen, Tobias Dreyer   +13 more
wiley   +1 more source

No Evidence for the Pathogenicity of the BRCA2 c.6937 + 594T>G Deep Intronic Variant: A Case-Control Analysis. [PDF]

Genet Test Mol Biomarkers, 2018
Dutil J, Godoy L, Rivera-Lugo R, Arroyo N, Albino E, Negrón L, Monteiro AN, Matta JL, Echenique M.   +8 more
europepmc   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1951-1955, September 2026.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Cellularized Skin Substitute Bioengineering for Regenerative Medicine: Cell Sources, Culture Strategies, and Transition Toward Defined, Xeno‐Free Culture Systems

Advanced Healthcare Materials, Volume 15, Issue 34, 11 September 2026.
Advances in cell sources, bioengineering, and manufacturing are reshaping the design of skin substitutes. This review highlights emerging strategies driving skin tissue engineering and discusses their potential to enable safer, reproducible, and clinically accessible skin substitutes for regenerative medicine.
Gilles Lemaître, Marina Trouillas, Tatiana Vinasco‐Sandoval, Cécile Giordano, Alexandre G. Lellouch, Walid Rachidi, Jean‐Jacques Lataillade, Nicolas O. Fortunel   +7 more
wiley   +1 more source

CHCHD10 Mitigates Alzheimer's Disease‐Related Phenotypes in Association With Epigenetic Remodeling in Directly Reprogrammed Neurons

Advanced Science, Volume 13, Issue 51, 14 September 2026.
CHCHD10 loss in Alzheimer's disease is associated with mitochondrial dysfunction, epigenomic disruption, and tau pathology. Restoration of CHCHD10 shifts DNA methylation toward a non‐disease state and reduces tau and amyloid pathology, with KATNAL2 acting as a downstream effector.
Teresa M. Thomas, Ching‐Yao Yang, Kexin Zhang, Liam Wetzel, Dina Bugybayeva, Julia Ferguson, Md Mahmudul Hasan, William Samsa, Nandita Patil, Anshul Dash, Tarini Gowda, Xiongwei Zhu, Feixiong Cheng, Tian Liu   +13 more
wiley   +1 more source

A novel intronic variant ABO*AW allele resulting in weak A expression

Transfusion, EarlyView.
Yujung Jung, Samantha Harris, Shelley Fletcher, Lay See Er, Sunitha Vege, June Fertes, Mohammad Alam, Moritz Stolla, Theresa Nester   +8 more
wiley   +1 more source