Results 91 to 100 of about 155,037 (258)

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Recurrent, atraumatic acute compartment syndrome secondary to IgA vasculitis: A case report

Journal of the American College of Emergency Physicians Open
Acute compartment syndrome is a surgical emergency requiring rapid recognition in the emergency department to minimize morbidity and mortality. It is most commonly caused by traumatic extremity fractures, which account for about 75% of cases.
Mel Ebeling, Blake Hudson
doaj   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

Unraveling A4GALT Mechanism and Its Modulation With Adamantyl‐Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies

Angewandte Chemie, EarlyView.
A 310‐helix‐mediated conformational switch promotes a front‐face SNi‐like catalysis by human A4GALT. Mechanism‐guided design identifies AdaGalCer as a selective modulator of globotriaosylceramide (Gb3) biosynthesis, opening a clear route toward new Fabry disease therapeutics.
Nicky de Koster, Òscar Vidal‐Gironès, Rowan de Graaf, Ken Kok, Lindsey T. Lelieveld, Jackelien Hoogervorst, Maria J. Ferraz, José Pablo Rivas‐Fernández, Rob F. Lammers, Herman S. Overkleeft, Johannes M. F. G. Aerts, Rolf G. Boot, Carme Rovira, Marta Artola   +13 more
wiley   +2 more sources

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Chronic Renal Failure in a Patient Due to Gluteal Compartment Syndrome After a Nephrectomy Operation

Turkish Journal of Nephrology, 2019
Gluteal compartment syndrome is a rare reason of rhabdomyolysis resulting from atraumatic origin, and leading to renal failure. Beside to other atraumatic causes like drug abuse, alcohol intoxication, and antihyperlipidemic medications prolonged ...
Özkan ULUTAŞ, Hülya TAŞKAPAN, Ali DOĞAN, Aski VURAL   +3 more
doaj  

Sequential bilateral chronic calf compartment syndrome in a non-athletic patient: A case report

Journal of Orthopaedic Reports
Chronic compartment syndrome is an underdiagnosed cause of leg pain primarily seen secondary to exertion in athletic patients, with risk factors including anabolic steroid use.
Zavier Yongxuan Lim, Vikaesh Moorthy, Lester Teong Jin Tan   +2 more
doaj   +1 more source

IRF‐1 modulates hepatic ferroptosis and aggravates liver ischemia/reperfusion injury via DYRK1α

Animal Models and Experimental Medicine, EarlyView.
IRF‐1 modulates hepatic ferroptosis and aggravates liver ischemia/reperfusion injury via DYRK1α. Abstract Background The purpose is to define the contribution of the interferon regulatory factor‐1–dual‐specificity tyrosine phosphorylation‐regulated kinase 1α (IRF‐1–DYRK1α) axis to hepatocellular ferroptosis during liver ischemia/reperfusion injury ...
Jinping Zhang, Jinming Zhang, Siyuan Song, Mingyang Li, Liying Sun, Zhijun Zhu, Dongdong Lin   +6 more
wiley   +1 more source

SDPR–STK38 axis controls the proliferation–differentiation balance in alveolar type II cells

Animal Models and Experimental Medicine, EarlyView.
The present study identifies SDPR as a pivotal regulator orchestrating the balance between proliferation and differentiation in alveolar type II (AT2) cells. In SDPR+/+ cells, SDPR binds to and inhibits STK38 activity, thereby sustaining GSK‐3β signaling functionality to promote cyclin D1 degradation and maintain cell cycle homeostasis.
Jie Wang, Xuepei Lei, Yiying Huang, Jiaming Tang, Guiying Shi, Hang Li, Lin Bai   +6 more
wiley   +1 more source