Results 151 to 160 of about 81,851 (305)

The Myeloma Risk Variant of TNFRSF13B Shows Reduced NF‐κB Signalling Activity in HEK293 Cells

European Journal of Haematology, EarlyView.
ABSTRACT A single nucleotide variant rs34562254 in TNFRSF13B, which encodes TACI (transmembrane activator and CAML interactor), is associated with an increased risk of myeloma and MGUS. This variant encodes a proline to leucine substitution at residue 251 in the long isoform (P251L) and residue 205 in the short isoform (P205L) of TACI.
Richard Muyan Chen, Jackie L. Ludgate, Robert J. Weeks, Heather E. Cunliffe, Ali G. Dohan, Ian M. Morison   +5 more
wiley   +1 more source

Post‐Hoc Long‐Read Sequencing Links Leukemic Mutation Status to Single‐Cell Transcriptomes

European Journal of Haematology, EarlyView.
ABSTRACT Single‐cell RNA‐sequencing‐based characterization of cells that belong to the neoplastic clone is a major challenge in hematologic neoplasms, where malignant and normal cells coexist. Confident molecular profiling requires simultaneous analysis of gene expression and genetic mutations in individual cells, an ability that is not supported by ...
Sofia Papavasileiou, Chenyan Wu, Daryl Boey, Lucille Margerie, Jiezhen Mo, Ulla Olsson‐Strömberg, Stina Söderlund, Gunnar Nilsson, Joakim S. Dahlin   +8 more
wiley   +1 more source

Efficacy of plasma exchange and exchange transfusion in the clinical management of severe hypertriglyceridemia in emergency. [PDF]

Mol Genet Metab Rep
Stefanutti C, Zeppa G, Perrone G, Labbadia G, Galoppi P, Demarco V, Fornari E, Bordugo A, Santelia C, Mancioppi V, Zenti MG, Cossu M, Sovrano B, Vivenzio A, Cohen H, Soran H, Pisciotta L, Maffeis C, Bjelakovic B, Widhalm K, Rizzo G, MIGHTY MEDIC - Multidisciplinary International Group for Hemapheresis Therapy and Metabolic Disorders Control.   +21 more
europepmc   +1 more source

TOP1MT rs2293925 is an enhancer‐active regulatory SNP that shapes mitochondrial R‐loop dynamics

The FEBS Journal, EarlyView.
This study shows how a common genetic variant of mitochondrial topoisomerase 1 (TOP1MT rs2293925) can influence mitochondrial gene regulation, DNA topology, and formation of noncanonical nucleic acid structures such as R‐loops. By linking this enhancer‐active variant to mitochondrial nucleic acid stress in cellular contexts relevant to amyotrophic ...
Dóra Varga, Zsolt Ráduly, Beáta Boros‐Oláh, Éva Nagy, Zsolt Karányi, László Halász, Bálint László Bálint, György Vámosi, Emese Tóth, Péter Bai, Serena Santangelo, Patrizia Bossolasco, Antonia Ratti, Vincent Géli, Yves Pommier, Lóránt Székvölgyi   +15 more
wiley   +1 more source

Molecular Epidemiology of Thalassemia in University Town, Chongqing: Spectrum of Pathogenic Variants and Implications for Carrier Screening. [PDF]

Pharmgenomics Pers Med
Cai W, Liang Y, Kang LN, Jin YQ, Xu P.
europepmc   +1 more source

Directional information flow in human frataxin defines allosteric pathways connecting the hydrophobic core to the iron‐binding ridge

The FEBS Journal, EarlyView.
Human frataxin deficiency causes Friedreich's ataxia, yet how iron‐binding events are communicated across the protein is unclear. Using transfer entropy analysis of molecular dynamics simulations, we identify buried hydrophobic core leucines (LEU136, LEU140) as the source of directional signaling toward the iron‐binding acidic ridge.
Kevser Kübra Kırboğa, Ecir Uğur Küçüksille   +1 more
wiley   +1 more source

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source

Genetic mutations within tva receptor gene confer resistance to ALV-A and ALV-K infection in chickens. [PDF]

Poult Sci
Xu H, Chen H, Yang M, Wen Y, Kuang Z, Su W, Chen S, Xie Q, Chen W.   +8 more
europepmc   +1 more source

A single nucleotide polymorphism genotyping panel for efficient genetic stock identification of the Teno river Atlantic salmon (Salmo salar) population complex

Journal of Fish Biology, EarlyView.
Abstract A new single nucleotide polymorphism (SNP) panel for genetic stock identification in the Teno river Atlantic salmon, Salmo salar L., fishery was developed, with a view to improving on an existing microsatellite panel. Twenty‐two genetically differentiated reporting units were proposed based on population genetic analyses of 1212 individuals ...
Helena Johansson, Jaakko Erkinaro, Morten Falkegård, Anders Foldvik, Panu Orell, Craig R. Primmer, Victoria L. Pritchard   +6 more
wiley   +1 more source

Diagnostic Challenges of Hemoglobin (Hb) Hekinan with deletional α⁰-thalassemia and β⁰-thalassemia During Prenatal Screening for Fetal Hb E/β-Thalassemia Risk. [PDF]

Mediterr J Hematol Infect Dis
Chumnumsiriwath P, Charoenporn P, Jermnim S, Suannum P, Samaisombat M, Tapprom A, Deoisares R, Wong P.   +7 more
europepmc   +1 more source