Results 141 to 150 of about 86,998 (259)

Early Dapagliflozin and Melatonin Treatment Ameliorated LV Fibrosis via Suppressing TGF‐β1/Smads and Activating Nrf2‐ARE Signaling in MI Rodent

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT This study tested whether combined dapagliflozin (DAPA) and melatonin (Mel) therapy was superior to merely one for ameliorating the left ventricular (LV) fibrosis/remodeling and improving LV ejection fraction (LVEF) in rats after acute myocardial infarction (AMI). In vitro study demonstrated that DAPA treatment significantly suppressed the TGF‐
Jiunn‐Jye Sheu, Jui‐Ning Yeh, Han‐Tan Chai, John Y. Chiang, Chi‐Ruei Huang, Jun Guo, Hon‐Kan Yip   +6 more
wiley   +1 more source

Identification of a core set of <i>Campylobacter jejuni</i> flagella modification genes and a reversible non-motile <i>maf3</i> phenotype. [PDF]

Microbiology (Reading)
Munjoma L, Bayliss CD.
europepmc   +1 more source

Rare‐Variant Burden across Lysosomal Genes Implicates Sialylation and Ganglioside Metabolism in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Lysosomal dysfunction is central to Parkinson's disease (PD) pathogenesis, with GBA1 representing the strongest established genetic risk factor. Numerous other genes involved in lysosomal sphingolipid, glycosphingolipid, and ceramide metabolism have been proposed as contributors to PD, highlighting the need for genetic analyses ...
Konstantin Senkevich, Sitki Cem Parlar, Cloe Chantereault, Lang Liu, Eric Yu, Uladzislau Rudakou, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin‐Baer, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Roy N. Alcalay, Ziv Gan‐Or   +21 more
wiley   +1 more source

Accurate imputation of African cattle genomes using a diverse reference panel. [PDF]

BMC Genomics
Ng'ang'a SI, Ward JA, Rossiter SJ, Faulkes CG, Bougiouri K, McHugo GP, Cotterill FPD, Nyachieo A, Thalmann O, Medugorac I, Krebs S, Sonstegard TS, Hanotte O, Bradley DG, Vaughan-Smith G, MacHugh DE, Frantz LAF.   +16 more
europepmc   +1 more source

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1‐Related Disease

Movement Disorders, EarlyView.
Abstract Background Cerebellar ataxia, neuropathy and vestibular are flexia syndrome (CANVAS) and RFC1‐related disease are most commonly caused by biallelic AAGGG repeat expansions in RFC1. The high population frequency of this expansion compared to the frequency of CANVAS suggests incomplete penetrance.
Xuemin Wang, Liam G. Fearnley, Kayli C. Davies, Penny Snell, Stuart Lee, Victoria E. Jackson, Justin Read, Michael Milton, Ian H. Harding, Martin B. Delatycki, David J. Szmulewicz, Paul J. Lockhart, Melanie Bahlo, Haloom Rafehi   +13 more
wiley   +1 more source

A Case of Aymé-Gripp Syndromic Congenital Cataracts and Pigmentary Retinopathy Caused by a Novel MAF Variant in the N-Terminal Transactivation Domain-A Case Report and Literature Review. [PDF]

Genes (Basel)
Chauhan M, Rickels KL, Kurup SP, Bohnsack BL, Ing A, Drackley A, Goetsch Weisman A, Allegreti V, Yap K, Rathbun P, Skol A, McMullen P, Ralay Ranaivo H, Rossen JL.   +13 more
europepmc   +1 more source

DNAJC13 Variants Show No Robust Association With Parkinson's Disease in a Multiancestry Cohort

Movement Disorders, EarlyView.
Abstract Background DNAJC13 was initially linked to autosomal dominant (AD) Parkinson's disease (PD) in a European Mennonite family carrying the p.N855S variant. However, imperfect segregation and conflicting reports of pathogenicity raised uncertainty of the role of DNAJC13 in the disease.
César Luis Ávila, Mariam Isayan, Yasser Mecheri, Paula Saffie‐Awad, María Milagros Leila, Laurel A. Screven, Hampton Leonard, Maria Teresa Periñan, Sheila Yeboah, Kristin Levine, Mary B. Makarious, on behalf of the Global Parkinson's Genetics Program (GP2)   +11 more
wiley   +1 more source

Elevated Allele Frequency of a Common Germline <i>LAG3</i> Variant Associated with Anemia, Thrombocytopenia and Peripheral Blast Percentage in Acute Myeloid Leukemia. [PDF]

Cancers (Basel)
Seipel K, Shaforostova I, Tarozzi E, Kronig MN, Bacher U, Pabst T.   +5 more
europepmc   +1 more source

MAF Family Protein [PDF]

, 2020
openaire   +1 more source

Rare‐Variant Burden Analysis of Dystonia Genes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Dystonia frequently coexists with Parkinson's disease (PD), yet the extent of genetic overlap remains insufficiently explored. Objective The aim was to examine whether rare variants in dystonia‐related genes are associated with PD or early‐onset PD (EOPD).
Sajanth Kanagasingam, Sitki Cem Parlar, Lang Liu, Ziv Gan‐Or, Konstantin Senkevich   +4 more
wiley   +1 more source