Results 171 to 180 of about 63,140 (263)

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Utilization of long-read sequencing for the detection of structural rearrangements with AgileStructure. [PDF]

Bioinformatics
Lascelles C, Raynor M, Crinnion LA, Rose AMS, Diggle CP, Poulter JA, Watson CM, Carr IM.   +7 more
europepmc   +1 more source

Extranodal Marginal Zone Lymphoma: Integrating Etiology, Microenvironment, and Genetics Into Clinical Decision‐Making

European Journal of Haematology, EarlyView.
ABSTRACT Extranodal marginal zone lymphoma (EMZL) represents a unique paradigm among indolent B‐cell neoplasms, in which lymphomagenesis is frequently driven by chronic antigenic stimulation within tissue‐specific microenvironments. Persistent infectious or autoimmune triggers promote the development of ectopic lymphoid tissue and sustain B‐cell ...
Mamdouh Skafi, Santino Caserta, Enrica Antonia Martino, Ernesto Vigna, Antonella Bruzzese, Nicola Amodio, Marco Fiorillo, Eugenio Lucia, Graziella D'Arrigo, Virginia Olivito, Caterina Labanca, Francesco Mendicino, Maria Eugenia Alvaro, Giovanni Tripepi, Fortunato Morabito, Massimo Gentile   +15 more
wiley   +1 more source

SKY92 Identifies High‐Risk Newly Diagnosed Multiple Myeloma With Inferior Progression‐Free Survival and Implicates NUF2 as a Candidate Driver

European Journal of Haematology, EarlyView.
ABSTRACT Objectives To determine the prevalence and prognostic significance of the SKY92 gene‐expression signature, evaluate minimal/measurable residual disease (MRD), and identify molecular drivers of high‐risk disease in transplant‐eligible newly diagnosed multiple myeloma (TE‐NDMM) patients in the Republic of Ireland.
Roisin M. McAvera, Izabela Cymer, John Quinn, Phillip T. Murphy, Patrick Thornton, Niamh McAuley, Harmony Black, Omar Abdelzaher, Catherine Duane, Tatiana Cichocka, Eva Szegezdi, Meegahage Perera, Gerard M. Crotty, Michelle Connolly, Aileen Walsh, Ruth Clifford, Janusz Krawczyk, Teresa Meenaghan, Vitaliy Mykytiv, Ezzat Elhassadi, Mark Coyne, Robert J. Cummins, Rowan Kuiper, Michael O'Dwyer, Siobhan V. Glavey   +24 more
wiley   +1 more source

Abnormal Ultrasonography Overcomes NIPT's Inherent Limitations: Revealing Two Cases of NIPT False Negatives Caused by Trisomy 21 Mosaicism and a Literature Review. [PDF]

Int J Womens Health
Mu Y, Jing Y, Liu X, Lin F, He Q, Li Y, Ming X, Chen G, Wang Y, Zhu T.   +9 more
europepmc   +1 more source

Homologous recombination mutants cause differing lethality between h− and h+ Schizosaccharomyces pombe strains due to mat1 heterochromatin

The FEBS Journal, EarlyView.
Homologous recombination (HR) in Schizosaccharomyces pombe is essential when mating‐type switching–induced double‐strand breaks (DSBs) form at the mat1 locus. In h90 and h− strains, efficient mat1 DSB formation renders HR indispensable unless suppressors block these breaks.
Peter Kolesar, Siarhei Paliavoi, Barbora Stefanovie, Jan Josef Palecek   +3 more
wiley   +1 more source

Spatially resolved mapping of histones reveals selective neuronal response in Rett syndrome

The FEBS Journal, EarlyView.
Loss of Mecp2 function is associated with Rett syndrome (RTT). MeCP2 regulates chromatin, yet its influence on histone composition and dynamics is unclear. Combining MALDI‐MSI with LCM–LC–MS/MS, we mapped histone proteoforms across the dentate gyrus, cornu ammonis, and cerebellum in two mouse models of RTT.
Frederike Schäfer, Giuseppina De Rocco, Moritz Völker‐Albert, Ignasi Forne, Nicoletta Landsberger, Axel Imhof, Shibojyoti Lahiri   +6 more
wiley   +1 more source

Compromised DNA replication in gut cells underlies sensitivity to genotoxic stress in the tardigrade Hypsibius exemplaris

The FEBS Journal, EarlyView.
DNA damage in the tardigrade Hypsibius exemplaris elicits distinct cellular outcomes depending on replication status. While non‐replicating cells tolerate genotoxic stress, constitutively replicating cells undergo irreversible replication failure upon DNA damage, leading to loss of tissue homeostasis, fat depletion, sterility, and organismal death ...
Gonzalo Quiroga‐Artigas, Pauline Fontanié, Benjamin Lacroix, Maria Dolores Molina, María Moriel‐Carretero   +4 more
wiley   +1 more source

Ligand binding represses bacterial histidine kinase activity by inhibiting its dimerization

The FEBS Journal, EarlyView.
PdtaS is a kinase in the pathogen Mycobacterium tuberculosis that senses copper and nitric oxide and controls virulence gene expression, but how the kinase senses these compounds was unclear. We show that PdtaS is active as a dimer with each monomer phosphorylating the other in trans.
Gaurav D. Sankhe, Jiawei Xing, Xiansha Xiao, John A. Buglino, Huilin Li, Igor B. Zhulin, Michael S. Glickman   +6 more
wiley   +1 more source