Results 201 to 210 of about 455,442 (295)

Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing. [PDF]

Hum Mutat
Qin S, Wang X, Wang J, Leng X, Zhang Z, Chen X, Yin Y.   +6 more
europepmc   +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

Eosinophilia and Hypereosinophilia: A Practical Approach to Navigating a Broad Differential Diagnosis

European Journal of Haematology, EarlyView.
ABSTRACT Eosinophilia, defined as an absolute eosinophil count (AEC) of ≥ 0.5 × 109/L, is a frequently encountered finding with a vast spectrum of potential underlying etiologies. Hypereosinophilia (HE) is defined as AEC > 1.5 × 109/L and may become life‐threatening when eosinophil‐induced organ damage occurs, defining the hypereosinophilic syndrome ...
Stijn Wigerinck, Peter Vandenberghe
wiley   +1 more source

The Chromosomal Organization of Isleria hauxwelli and Its Meaning for the Karyotypic Evolution in Thamnophilidae (Passeriformes). [PDF]

Anim Genet
Ferreira PVM, Ribas TFA, Monteiro AN, de Silva Tembra LG, de Andrade Machado M, O'Brien PCM, Ferguson-Smith MA, Yang F, Nagamachi CY, Pieczarka JC.   +9 more
europepmc   +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

A rare <i>de novo</i> prenatal case of Down syndrome due to der(21;21)(q10;q10). [PDF]

Arch Clin Cases
Manea-Sabau ID, Curici A, Lucuta L, Ciurea T, Riza M, Suciu-Lazar V, Anton R, Ceausu I.   +7 more
europepmc   +1 more source

Mechanisms underpinning the progression of nondysplastic Barrett's oesophagus to cancer

The FEBS Journal, EarlyView.
Barrett's oesophagus confers a low but significant cancer risk. The condition is common but we do not have effective biomarkers to identify susceptible patients. We believe that there is no single factor that determines cancer risk and an understanding of the combinations of interactions (via gene expression and natural selection) between the Barrett's
Yannick H. Derwa, Meng‐Lay Lin, Stuart A. C. McDonald   +2 more
wiley   +1 more source

A Researcher's guide to rodent models of Down syndrome: Recent insights and translational perspectives. [PDF]

STAR Protoc
Raza MA, Folz A, Victorino DB, Xing Z, Chen XQ, Zuo X, Borden LK, Potier MC, Mobley W, Dierssen M, Hiratsuka M, Kazuki Y, Welshhans K, Maugham-Macan M, Tramutola A, Okun E, Reeves R, Roper RJ, Yu YE, Hérault Y, Tybulewicz VLJ, Fisher EMC, Sathyanesan A.   +22 more
europepmc   +1 more source