Results 121 to 130 of about 78,014 (306)

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

Characteristics of relatives at high autoantibody-inferred risk (HR) (IA-2A⁺ or ZnT8A⁺ plus ≥ 1 other autoantibody) [9] according to progression rate to diabetes.

, 2016
Characteristics of relatives at high autoantibody-inferred risk (HR) (IA-2A+ or ZnT8A+ plus ≥ 1 other autoantibody) [9] according to progression rate to diabetes.
Ilse Vermeulen (3373907), Pascale Abrams (3373904), Eric Weber (2378128), Pieter De Pauw (3373892), Bruno Lapauw (3373895), Pieter Gillard (93151), Annelien Van Dalem (3373898), Simke Demeester (3373901), Frans K. Gorus (93159), Eric V. Balti (3373910), Ilse Weets (3373913), Daniël Pipeleers (3373886), Christophe De Block (3373889), Bart Keymeulen (93162)   +13 more
core   +1 more source

Phenotypic profiling of pristane‐induced mimicking human systemic lupus erythematosus in Macaca fascicularis

Animal Models and Experimental Medicine, EarlyView.
Pristane (5 mL/kg) induced a robust systemic lupus erythematosus (SLE)‐like phenotype in Macaca fascicularis, marked by elevated antinuclear antibody (ANA) levels and systemic clinical, hematological, and biochemical changes. This model closely reflects human SLE and provides a translational platform for disease studies and therapeutic evaluation ...
Jonny Jonny, Soetojo Wirjopranoto, Chairul A. Nidom, I Ketut Sudiana, Terawan A. Putranto, Elisa D. Pratiwi, Tiza W. Mawaddah, Astria N. Nidom, Reviany V. Nidom, Setyarina Indrasari, Irma Y. Rosytania, Hiqmah Y. Yana, Sanindita Kusumastuti   +12 more
wiley   +1 more source

Recent advances in the construction of humanized animal models and applications in translational medicine

Animal Models and Experimental Medicine, EarlyView.
Substantial advances have been achieved in the development of humanized mouse models, which have proven highly valuable in evaluating cancer immunotherapies and elucidating the mechanisms of infectious diseases. There is now a growing shift in research toward larger animal models—such as pigs—that offer greater physiological similarity to humans ...
Yanan Lyu, Yong‐Guang Yang, Zheng Hu
wiley   +1 more source

The immunology underlying CNS autoantibody diseases

The past two decades have seen a considerable paradigm shift in the way autoimmune CNS disorders are considered, diagnosed, and treated; largely due to the discovery of novel autoantibodies directed at neuroglial surface or intracellular targets.
Cleaver, J, Handel, A, Ceronie, Bryan, Strippel, Christine, Irani, Sarosh   +4 more
core   +1 more source

Relapses, Comorbidities, and Predictors of Outcome in Anti‐GABAA Receptor Encephalitis

Annals of Neurology, EarlyView.
Objectives To characterize the magnetic resonance imaging (MRI) lesion dynamics, comorbidities, predictors of relapse, and outcomes in anti‐γ‐aminobutyric acid type A receptor (GABAAR) encephalitis, and assess the utility of LIM‐domain‐only‐protein 5 (LMO5) antibodies as tumor markers.
Claudia Papi, Chiara Milano, Laura Marmolejo, Ana Beatriz Serafim, Esther Aguilar, Mar Guasp, Elianet Fonseca, Mateus Mistieri Simabukuro, Raffaele Iorio, Yuki Fukami, Maria Lucia Schmitz Ferreira Santos, Takashi Miwa, Takashi Araga, Yuto Uchida, Masanori Kurihara, Satoshi Okada, Luz Victoria Garcia, Kenichi Kaida, Natalia Spinola Costa da Cunha, Alberto Vogrig, Florian Lamblin, Juna M. de Vries, Livia Almeida Dutra, Romana Höftberger, Maarten J. Titulaer, Jesús Planagumà, Lidia Sabater, Eugenia Martinez‐Hernandez, Thais Armangué, Francesc Graus, Takahiro Iizuka, Josep Dalmau, Marianna Spatola, Anti‐GABAAR encephalitis study group   +33 more
wiley   +1 more source

Gephyrin Neurological Autoimmunity

Annals of Neurology, EarlyView.
Gephyrin is a postsynaptic scaffold protein essential for inhibitory neurotransmission. Gephyrin‐immunoglobulin G (IgG) was reported, decades ago, in a single case of paraneoplastic stiff‐person‐like syndrome, but its broader clinical relevance remains unknown.
Maria Chiara Pantuliano, Friederike A. Arlt, Naomi Arenson, Irena Dujmovic Basuroski, Divyanshu Dubey, Connie E. Lesnick, John R. Mills, Sean J. Pittock, Anastasia Zekeridou, Michael A. Lane, Andrew McKeon   +10 more
wiley   +1 more source

Cytokine Pathways Driving Diverse Tissue Pathologies in Rheumatoid Arthritis

Arthritis &Rheumatology, EarlyView.
Rheumatoid arthritis (RA) is a complex systemic disorder characterized primarily by articular inflammation and destruction with associated functional loss and reduced quality of life. RA is also associated with extra‐articular disease, such as that of the lung, with potentially devastating clinical consequences. The critical importance of comorbidities,
Aurelie Najm, Lyn D. Ferguson, Iain B. McInnes   +2 more
wiley   +1 more source

Autoantibody biomarker opens a new gateway for cancer diagnosis

, 2006
The list of cancer markers of current interest has grown considerably, but none of the markers used in clinical work is a true tumor marker. These cancer biomarkers are based on the determination of tumor antigens.
Johnson, N., Cho-Chung, Y.S., Cheadle, C., Nesterova, M.   +3 more
core   +1 more source