Results 71 to 80 of about 30,315 (187)

DHX15 affects AML1‐ETO9a splicing together with HNRNPL, RBM33 in AML1‐ETO‐positive acute myeloid leukaemia

British Journal of Haematology, EarlyView.
Moderate DHX15, HNRNPL and RBM33 expression drives predominant AML1‐ETO mRNA production, while elevated expression of them promotes generating more AE9a mRNA (Aspartic acid ‐ Glutamic acid ‐ Alanine ‐ Aspartic acid sequence)(messenger ribonucleic acid).
Qiao Liu, Xuechun Wang, Jiqiang Fan, Yi Zheng, Luya Ye, Wenhan Chang, Xianglei Chen, Yuanhua Cai, Xiaolin Lai, Yang Li, Lili Pan, Xiaofan Li, RenJang Lin, Shaoyuan Wang   +13 more
wiley   +1 more source

Resposta a antígenos polissacarídicos em pacientes com ataxia-telangiectasia Response to polysaccharide antigens in patients with ataxia-telangiectasia

Jornal de Pediatria, 2006
OBJETIVO: Estudar a produção de anticorpos a antígenos polissacarídicos em pacientes com ataxia-telangiectasia CASUÍSTICA E MÉTODO: Utilizando a técnica de ELISA, determinamos os níveis de IgG aos sorotipos 1, 3, 5, 6B, 9V e 14 do pneumococo em 14 ...
Maria Cristina Guerra-Maranhão, Beatriz T. Costa-Carvalho, Victor Nudelman, Patrícia Barros-Nunes, Magda M. S. Carneiro-Sampaio, Cristina Arslanian, Aparecida T. Nagao-Dias, Dirceu Solé   +7 more
doaj   +1 more source

When to consider an inborn error of immunity: clues for physicians

Internal Medicine Journal, EarlyView.
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley   +1 more source

Mre11 assembles linear DNA fragments into DNA damage signaling complexes.

PLoS Biology, 2004
Mre11/Rad50/Nbs1 complex (MRN) is essential to suppress the generation of double-strand breaks (DSBs) during DNA replication. MRN also plays a role in the response to DSBs created by DNA damage.
Vincenzo Costanzo, Tanya Paull, Max Gottesman, Jean Gautier   +3 more
doaj   +1 more source

RAD51 and RAD51 paralog inhibition sensitizes nonreplicating quiescent keratinocytes to UV radiation

Photochemistry and Photobiology, EarlyView.
UV radiation and other compounds generate DNA adducts that block transcription and induce cell death if not removed by the nucleotide excision repair system. In this work, we used a small‐scale pharmacological screen to discover that inhibition of the recombinase RAD51 sensitized nonreplicating quiescent keratinocytes to both UVR and other agents that ...
Saman Khan, Angitha Nair, M. Alexandra Carpenter, Michael G. Kemp   +3 more
wiley   +1 more source

Pseudo‐Dystonic Gait in a Preschool Child: Foot Posturing Contralateral to a Cuboid Fracture

Movement Disorders Clinical Practice, EarlyView.
Allison J. Chirigos, Donald L. Gilbert, Barbara E. Hallinan, Jes Marchbank, Alberto J. Espay   +4 more
wiley   +1 more source

Born early, age fast: Consequences of premature birth on chronic disease and accelerated ageing

The Journal of Physiology, EarlyView.
Abstract figure legend ELGANs are exposed to several postnatal pro‐oxidant stressors, including ambient and supplemental oxygen, mechanical ventilation, infections, hyperalimentation, excessive glucocorticoids and intermittent hypoxia. Since endogenous antioxidant defences are underdeveloped, this imbalance promotes oxidative stress and inflammation ...
Estelle B. Gauda, Julijana Ivanovska, Dwayne Mascarenhas, Jeffrey Antwi, Atefeh Mohammadi, Bonny Jasani   +5 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Ataxia Telangiectasia [PDF]

Proceedings of the Royal Society of Medicine, 1963
openaire   +4 more sources

My A–T pack: a qualitative study of the utility, acceptability, design, and content of a family-designed and owned information pack relevant to the lives of children and young people living with ataxia telangiectasia

Orphanet Journal of Rare Diseases
Background Ataxia telangiectasia (A–T) is a rare genetic and progressive condition, primarily affecting the neurological, immunological, and pulmonary systems.
Munira Khan, Elizabeth Cassidy, Tracey Parkin, Amanda Wallace, Bernie Carter, William Whitehouse, James Munro, Joanne Paton, A.-Team Collaborative, Lisa Bunn   +9 more
doaj   +1 more source