Results 21 to 30 of about 1,648 (159)

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

Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia. [PDF]

Mov Disord
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Sorrentino U, Pavlov M, Mirza-Schreiber N, Brugger M, Brunet T, Tsoma E, Saparov A, Dzinovic I, Harrer P, Stehr AM, Wagner M, Tilch E, Wallacher B, Alhasan S, Koy A, Di Fonzo A, Kolnikova M, Kusikova K, Havrankova P, Tautanova R, Lösecke S, Eck S, Boesch S, Necpal J, Skorvanek M, Jech R, Prokisch H, Winkelmann J, Oexle K, Graf E, Zech M.   +30 more
europepmc   +2 more sources

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25

Annals of Neurology, 2022
ObjectiveDominant 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.MethodsWhole‐exome and whole‐genome sequencing were performed in families linked to SCA25 ...
Barbier, Mathieu, Bahlo, Melanie, Pennisi, Alessandra, Jacoupy, Maxime, Tankard, Rick, Ewenczyk, Claire, Davies, Kayli, Lino‐coulon, Patricia, Colace, Claire, Rafehi, Haloom, Auger, Nicolas, Ansell, Brendan, van der Stelt, Ivo, Howell, Katherine, Coutelier, Marie, Amor, David, Mundwiller, Emeline, Guillot-Noël, Lena, Storey, Elsdon, Gardner, R, Wallis, Mathew, Brusco, Alfredo, Corti, Olga, Rötig, Agnès, Leventer, Richard, Brice, Alexis, Delatycki, Martin, Stevanin, Giovanni, Lockhart, Paul, Durr, Alexandra   +29 more
openaire   +2 more sources

Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population

Journal of Advanced Research, 2021
Introduction: Hearing impairment (HI) is characterized by complex genetic heterogeneity. The evolution of next generation sequencing, including targeted enrichment panels, has revolutionized HI diagnosis.
Amal Souissi, Mariem Ben Said, Ikhlas Ben Ayed, Ines Elloumi, Amal Bouzid, Mohamed Ali Mosrati, Mehdi Hasnaoui, Malek Belcadhi, Nabil Idriss, Hassen Kamoun, Nourhene Gharbi, Abdullah A. Gibriel, Abdelaziz Tlili, Saber Masmoudi   +13 more
doaj   +1 more source

Papel de la enzima PNPasa en el transporte de ARNmt en cáncer linfático: Revisión bibliográfica [PDF]

, 2021
Lymphoma is the most common type of blood cancer today and, as its name suggests, it begins in the lymphatic system. The origin of this disease is related to mitochondrial defects, generated by mutations in the PNPase enzyme or polynucleotide ...
Lizanda Piqueras, Myriam, Ventura González, Ignacio   +1 more
core   +4 more sources

RNA binding protein FXR1-miR301a-3p axis contributes to p21WAF1 degradation in oral cancer.

PLoS Genetics, 2020
RNA-binding proteins (RBPs) associate with the primary, precursor, and mature microRNAs, which in turn control post-transcriptional gene regulation.
Mrinmoyee Majumder, Viswanathan Palanisamy   +1 more
doaj   +1 more source

Cytoplasmic mRNA decay represses RNA polymerase II transcription during early apoptosis

eLife, 2021
RNA abundance is generally sensitive to perturbations in decay and synthesis rates, but crosstalk between RNA polymerase II transcription and cytoplasmic mRNA degradation often leads to compensatory changes in gene expression.
Christopher Duncan-Lewis, Ella Hartenian, Valeria King, Britt A Glaunsinger   +3 more
doaj   +1 more source

Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?

Journal of Medical Genetics, 2020
Background Biallelic variants in PNPT1 cause a mitochondrial disease of variable severity. PNPT1 (polynucleotide phosphorylase) is a mitochondrial protein involved in RNA processing where it has a dual role in the import of small RNAs into mitochondria and in preventing the formation and release of mitochondrial ...
Alessandra Pennisi, Agnès Rötig, Charles-Joris Roux, Raphaël Lévy, Marco Henneke, Jutta Gärtner, Pelin Teke Kisa, Fatma Ceren Sarioglu, Uluç Yiş, Laura L Konczal, Deepika D Burkardt, Sulin Wu, Pauline Gaignard, Claude Besmond, Laurence Hubert, Marlène Rio, Giulia Barcia, Arnold Munnich, Nathalie Boddaert, Manuel Schiff   +19 more
openaire   +4 more sources

Identification of Novel Metabolism-Associated Subtypes for Pancreatic Cancer to Establish an Eighteen-Gene Risk Prediction Model

Frontiers in Cell and Developmental Biology, 2021
Pancreatic cancer (PanC) is an intractable malignancy with a high mortality. Metabolic processes contribute to cancer progression and therapeutic responses, and histopathological subtypes are insufficient for determining prognosis and treatment ...
Yang Gao, Enchong Zhang, Xiang Fei, Lingming Kong, Peng Liu, Xiaodong Tan   +5 more
doaj   +1 more source

Update in Molecular Aspects and Diagnosis of Autoimmune Gastritis

Current Issues in Molecular Biology, 2023
Recent studies have advanced our understanding of the pathophysiology of autoimmune gastritis, particularly its molecular aspects. The most noteworthy recent advancement lies in the identification of several candidate genes implicated in the pathogenesis
Masaya Iwamuro, Takehiro Tanaka, Motoyuki Otsuka   +2 more
doaj   +1 more source