Results 21 to 30 of about 1,596 (131)

Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy. [PDF]

Eur J Neurol
ABSTRACT Background Biallelic variants in polyribonucleotide‐nucleotidyltransferase‐1 (PNPT1) have been associated with a range of phenotypes from syndromic hearing loss to Leigh's syndrome. More recently, heterozygous variants in PNPT1, have been reported in three families with cerebellar ataxia and prominent sensory neuropathy.
Haddad S, Record CJ, Self E, Skorupinska M, Rossor AM, Laura M, Ingle G, Manzur A, Muntoni F, Blake JC, Reilly MM.   +10 more
europepmc   +2 more sources

Polyribonucleotide nucleotidyltransferase 1 (PNPT1; PNPASE) [PDF]

Science-Business eXchange, 2010
openaire   +3 more sources

Small Extracellular Vesicles in Gestational Diabetes Mellitus: Current Landscape and Emerging Diagnostic Horizons. [PDF]

J Extracell Biol
ABSTRACT Gestational diabetes mellitus (GDM) is a common metabolic disorder of pregnancy associated with significant maternal and neonatal morbidity and mortality. Current diagnostic strategies, particularly the oral glucose tolerance test (OGTT), are limited by late detection, variability in diagnostic criteria, and patient burden, highlighting the ...
Ahmed M, Temilola DO, Matjila M, Chetty M.   +3 more
europepmc   +2 more sources

Mitochondrial RNA maturation. [PDF]

RNA Biol
\ua9 2024 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group. The vast majority of oxygen-utilizing eukaryotes need to express their own mitochondrial genome, mtDNA, to survive.
Chrzanowska-Lightowlers ZM, Lightowlers RN.   +1 more
europepmc   +3 more sources

Circ-PNPT1 contributes to gestational diabetes mellitus (GDM) by regulating the function of trophoblast cells through miR-889-3p/PAK1 axis

Diabetology & Metabolic Syndrome, 2021
Background Gestational diabetes mellitus (GDM) is the most common medical complication of pregnancy. CircRNA polyribonucleotide nucleotidyltransferase 1 (circ-PNPT1) has been found to be abnormally expressed in GDM patients.
Li Zhang, Ming Zeng, Fei Tang, Jun Chen, Dongmei Cao, Ze-nan Tang   +5 more
doaj   +1 more source

Analysis of hepatitis B virus integration identifies KMT2B as a novel cancer-related gene in pancreatic cancer. [PDF]

Clin Transl Med
HBV DNA integrates in multiple genes including KMT2B in pancreatic cancer. KMT2B upregulation caused by HBV integration or other mechanisms promotes FYN expression via histone H3K4 trimethylation at its promoter region. Increased FYN expression activates the PI3K/Akt signalling pathway, thus driving PDAC cell proliferation, migration and invasion ...
Li M, Li H, Liu D, Liu S, Yuan H, Wu Y, Du M, Fang Y, Li J, Cong H, Zhao D, Fan C, Wang Q, Shen C, Gan Y, Sun Y, Tu H.   +16 more
europepmc   +2 more sources

Downregulation of LRP/LR with siRNA inhibits several cancer hallmarks in lung cancer cells

FEBS Open Bio, Volume 13, Issue 2, Page 323-340, February 2023., 2023
LRP/LR is overexpressed in many cancer cell types and is associated with various cancer‐promoting processes. In this study, we downregulated LRP/LR in lung cancer cells and showed that this strategy has a four‐fold function in impeding key cancer hallmarks in the lung cancer cells, which therefore has the potential for improving the prognosis of those ...
Monique J. Bignoux, Tyrone C. Otgaar, Martin Bernert, Stefan F. T. Weiss, Eloise Ferreira   +4 more
wiley   +1 more source

Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies [PDF]

, 2022
The genetic interferonopathies are a heterogeneous group of disorders thought to be caused by the dysregulated expression of interferons and are now commonly considered in the differential diagnosis of children presenting with recurrent or persistent ...
Benjamin, P, Boddaert, N, Carney, O, D'Arco, F, Eleftheriou, D, Hemingway, C, Lobel, U, Mankad, K, Roux, C-J, Sudhakar, S   +9 more
core   +1 more source

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25

Annals of Neurology, Volume 92, Issue 1, Page 122-137, July 2022., 2022
Objective Dominant spinocerebellar ataxias (SCA) are characterized by genetic heterogeneity. Some mapped and named loci remain without a causal gene identified. Here we applied next generation sequencing (NGS) to uncover the genetic etiology of the SCA25 locus.
Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, Maxime Jacoupy, Rick M. Tankard, Claire Ewenczyk, Kayli C. Davies, Patricia Lino‐Coulon, Claire Colace, Haloom Rafehi, Nicolas Auger, Brendan R. E. Ansell, Ivo van der Stelt, Katherine B. Howell, Marie Coutelier, David J. Amor, Emeline Mundwiller, Lena Guillot‐Noël, Elsdon Storey, R. J. McKinlay Gardner, Mathew J. Wallis, Alfredo Brusco, Olga Corti, Agnès Rötig, Richard J. Leventer, Alexis Brice, Martin B. Delatycki, Giovanni Stevanin, Paul J. Lockhart, Alexandra Durr   +29 more
wiley   +1 more source

Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome

Journal of Inherited Metabolic Disease, Volume 45, Issue 2, Page 292-307, March 2022., 2022
Abstract SUPV3L1 encodes a helicase that is mainly localized in the mitochondria. It has been shown in vitro to possess both double‐stranded RNA and DNA unwinding activity that is ATP‐dependent. Here we report the first two patients for this gene who presented with a homozygous preliminary stop codon resulting in a C‐terminal truncation of the SUPV3L1 ...
Selma L. van Esveld, Richard J. Rodenburg, Fathiya Al‐Murshedi, Eiman Al‐Ajmi, Sana Al‐Zuhaibi, Martijn A. Huynen, Johannes N. Spelbrink   +6 more
wiley   +1 more source