Results 171 to 180 of about 469,719 (256)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Vitamin B supplementation enhances the efficacy of non-steroidal anti-inflammatory drugs in patients with painful foot and ankle conditions: A multicenter, prospective, randomized controlled trial. [PDF]

PLoS One
Song MG, Park CH, Choi YR, Choi GW, Kim BS.   +4 more
europepmc   +1 more source

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

Shining light on the mechanism of photochemical alkene formation in vitamin B₁₂. [PDF]

Chem Sci
Mukherjee A, Wu SY, Cooper DJ, Hendrickson R, Sension RJ, Lehnert N, Penner-Hahn JE.   +6 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

Vitamin B levels in older adults with pre-frailty and frailty: the impact of MTHFR and TCN2 polymorphisms and their association with global DNA methylation and physical performance. [PDF]

Nutr Metab (Lond)
Chitta P, Pratumvinit B, Kaewboonruang W, Dawangpa A, Khamrangsee S, Assantachai P, Sutiwisesak R, Wongloet W, Tencomnao T, Sae-Lee C.   +9 more
europepmc   +1 more source

Evaluation of therapeutic effects of D‐limonene following orchiopexy in the rat model of cryptorchidism

Animal Models and Experimental Medicine, EarlyView.
D‐limonene supplementation enhances testicular recovery following orchiopexy in a rat model of bilateral cryptorchidism. Treatment with D‐limonene reduces oxidative stress (↓MDA, ↑SOD, ↑GPx, ↑TAC), downregulates pro‐apoptotic proteins (↓TNF‐α, ↓BAX, ↓Caspase‐3), and upregulates anti‐apoptotic Bcl‐2 expression.
Arman Norouzi‐Ghalehbala, Mohammadjavad Rezaei‐Varmaziar, Majid Taati, Ali Soleimanzadeh, Abbas Raisi, Farshid Davoodi, Amir Ali Shahbazfar   +6 more
wiley   +1 more source

Novel chemistry and structural perspectives in vitamin B₁₂-dependent radical SAM enzymes. [PDF]

Chem Sci
Berteau O, Teixeira Nunes M, Taraglio N, Legrand P, Benjdia A.   +4 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

Identification of a genetic risk factor for metformin-induced vitamin B₁₂ deficiency. [PDF]

Diabetologia
Baldwin FD, Bedair KF, Jorgensen AL, Green L, Asiimwe IG, Palmer CNA, Campbell A, Hayward C, Pan Q, Shu S, Li JH, Diabetes Prevention Program (DPP) Research Group, Pearson ER, Pirmohamed M, Carr DF.   +14 more
europepmc   +1 more source