Results 131 to 140 of about 212,512 (263)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Borylcyclopropanes: Synthetic Strategies and Applications

Angewandte Chemie, EarlyView.
Borylcyclopropanes (cyclopropanes bearing a boron substituent) sit at the intersection of two privileged frameworks in synthesis. This review provides the first exhaustive survey of their chemistry, spanning metal–carbene, nucleophilic cyclization, radical, hydroboration, and C─H activation routes, and documenting applications in medicinal chemistry ...
Aiza A. Butt, Joseph M. Ready
wiley   +2 more sources

Patterns of vitamin D deficiency and functional resistance in cancer: a brief observational report. [PDF]

Front Mol Biosci
Nair PMK, Sudarshan S, Sivaranjani S, Karthika E, Saranya M, Pandian AR, Shubakarini S, Mahalingam M, Sugashwaran J, Mahtani R, Moodala GKS, Silwal K.   +11 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Cobalt‐Catalyzed Radical Ligand Transfer (RLT) Enables Remote‐Markovnikov Hydroamination of Alkenes

Angewandte Chemie, EarlyView.
A cobalt‐catalyzed remote‐Markovnikov 1,3‐hydroamination of allyl carboxylates proceeds through MHAT, 1,2‐radical acyloxy migration (1,2‐RAM), and radical ligand transfer (RLT) from a Co‐N intermediate, providing protected amino alcohols. ABSTRACT Amino alcohols are prevalent in pharmaceuticals, agrochemicals, and functional materials, yet ...
Arman Khosravi, Ho Martin Yuen, Seth Fremin, Nuwan A. Pannilawithana, Nol Supasueb, Yu Zhang, Peng Liu, Ming‐Yu Ngai   +7 more
wiley   +2 more sources

Early-Life Vitamin A Deficiency Induces Tissue-Specific Oxylipin Remodeling and Hepatic Inflammation. [PDF]

Nutrients
Arballo J, Yang J, Engle-Stone R, ZhaoZhao K, Tang M, Ji P.   +5 more
europepmc   +1 more source

The potency of native postbiotics and paraprobiotics in modulating inflammation by affecting the gut–kidney axis

Animal Models and Experimental Medicine, EarlyView.
Native postbiotics and paraprobiotics derived from Lactobacillus and Bifidobacterium strains were administered to dextran sulfate sodium–treated C57BL/6 mice to evaluate their impact on kidney inflammation via the gut–kidney axis. Histological analysis and quantitative polymerase chain reaction of autophagy‐related genes (atg5, atg7, atg12, atg13 ...
Fatemeh Haririzadeh Jouriani, Mahnaz Torfeh, Fatemeh Ashrafian, Niloofar Rezaie, Mohsen Mohammadi, Shadi Aghamohammad, Mahdi Rohani   +6 more
wiley   +1 more source

Association between thyroid cancer and vitamin D deficiency. [PDF]

Chin Med J (Engl)
Lv T, Feng J, Cui L, Zhao J, Liao L.
europepmc   +1 more source

Gut–Brain Axis Modulation by Short‐Chain Fatty Acids Exerts Disease‐Modifying Effects in a Murine Model of Drug‐Resistant Epilepsy

Annals of Neurology, EarlyView.
Objective Drug‐resistant epilepsy (DRE) remains a clinical challenge, as therapies modifying disease trajectory are lacking. Increasing evidence implicates gut microbiota dysbiosis in epilepsy pathophysiology, with short‐chain fatty acids (SCFAs) emerging as key microbial metabolites with neuroprotective and anti‐inflammatory properties.
Akash A. Bera, Rossella Di Sapia, Greta Volpedo, Sneha Anand, Eray Sahin, Pasquale Baldassarre, Francesca Buffelli, Andrea Petretto, Chiara Lavarello, James D. Mills, Gabriele Cattaneo, Ilaria Craparotta, Eleonora Aronica, Antonella Riva, Pasquale Striano, Annamaria Vezzani, Teresa Ravizza   +16 more
wiley   +1 more source

Prevalence of Vitamin D Deficiency in Ataxia-Telangiectasia: A Systematic Review and Single Arm Meta-Analysis. [PDF]

Cerebellum
Iqbal MJ, Azhar M, Javaid H, Hassan A, Masood A, Menotta M.   +5 more
europepmc   +1 more source