Results 161 to 170 of about 184,846 (305)

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

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 D receptor signaling in inflammatory senescence-associated skin aging: Mechanisms and therapeutic potentials. [PDF]

J Cell Commun Signal
Guan L, Yang F, Li M, Chen Y, Zhao Z, Li H, Luo D, Li Q, Chen Y.   +8 more
europepmc   +1 more source

The vitamin D receptor and the etiology of RANTES/CCL-expressive fatty-degenerative osteolysis of the jawbone: an interface between osteoimmunology and bone metabolism

, 2018
Johann Lechner,1 Jürgen Aschoff,2 Tatjana Rudi3 1Clinic for Integrative Dentistry, Munich, Germany; 2Center for Integrative Healing, Wuppertal, Germany; 3Statistics at Institute for Epidemiological Studies, Berlin, Germany Background: Recent ...
Lechner J, Rudi T, Aschoff J
core  

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

A Lipid‐Conjugation Strategy for Intracellular Reactive Oxygen Species Control in Hepatic Cells

Angewandte Chemie, EarlyView.
A lipid conjugation strategy anchors a manganese Salen complex within phospholipid membranes, yielding stable, catalytically active liposomes. These lipid–metal assemblies efficiently degrade reactive oxygen species (ROS) and enable intracellular redox control in steatotic HepaRG cells, offering a precise route to biomimetic antioxidant design ...
Olav Vestrheim, Huichao Zhao, Anders Bodholt Nielsen, Nino Wili, Niels Chr. Nielsen, Joseph A. Lyons, Rajeshwar Prosad Mookerjee, Brigitte Städler   +7 more
wiley   +2 more sources

Association of Vitamin D Receptor Gene Polymorphisms with Periodontitis. [PDF]

J Dent (Shiraz)
Kami M, Saghaeian Jazi M, Allahyari M, Fakhari E.   +3 more
europepmc   +1 more source

A high‐fat diet with vitamin D and propylthiouracil produces a pro‐atherogenic phenotype in rats

Animal Models and Experimental Medicine, EarlyView.
Male Sprague–Dawley rats received a cholesterol‐rich high‐fat diet supplemented with vitamin D and propylthiouracil for 11 weeks. The model induced dyslipidemia (increased total cholesterol/low‐density lipoprotein, decreased triglycerides), inflammation (increased interleukin‐6 and serum amyloid A), hypercalcemia, and reduced circulating endothelial ...
Angélique Lewies, Vitaris Kodogo, Johannes Frederik Wentzel, Francis Edwin Smit   +3 more
wiley   +1 more source

Association between vitamin D receptor polymorphisms and osteoporosis in patients with COPD

, 2015
Sei Won Kim,1 Jong Min Lee,1 Jick Hwan Ha,1 Hyeon Hui Kang,1 Chin Kook Rhee,1 Jin Woo Kim,1 Hwa Sik Moon,1 Ki Hyun Baek,2 Sang Haak Lee1 1Division of Pulmonology, Critical Care and Sleep Medicine, 2Division of Endocrinology and Metabolism, Department of
Kim SW, Moon HS, Ha JH, Rhee CK, Kang HH, Lee SH, Baek KH, Lee JM, Kim JW   +8 more
core  

Cell therapy comparison of dental pulp stem cells, hepatocytes, and their exosomes for liver fibrosis treatment in rats

Animal Models and Experimental Medicine, EarlyView.
DPSCs, hepatocytes, and exosomes were tested for liver fibrosis therapy. Exosome‐based treatment exhibited superior antioxidative and regenerative effects. Liver enzymes, oxidative stress, and profibrotic markers were significantly reduced. α‐SMA, desmin, and related gene expression were downregulated.
Sahar Rahimi, Seyedeh Mahdieh Khoshnazar, Ali Derakhshani, Nader Shahrokhi   +3 more
wiley   +1 more source