Results 141 to 150 of about 46,967 (195)

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

open access: yesBritish Journal of Haematology, Volume 209, Issue 3, Page 964-977, September 2026.
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   +13 more
wiley   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

open access: yesClinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree   +18 more
wiley   +1 more source

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

open access: yesInternal Medicine Journal, Volume 56, Issue 9, Page 1488-1499, September 2026.
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

Skin Aging: From Molecular Mechanisms to Therapeutic and Technological Innovations

open access: yesJournal of Cellular and Molecular Medicine, Volume 30, Issue 18, September 2026.
ABSTRACT Aging is a complex, pervasive biological process that causes irreversible declines in function across organ systems. The skin, the body's largest organ, interfaces directly with the external environment and undergoes aging driven by intrinsic (chronological) and extrinsic (environmental) factors, which result in functional deterioration and ...
Sanyin Chen   +4 more
wiley   +1 more source

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

open access: yes
Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2268-2270, September 2026.
Allison J. Chirigos   +4 more
wiley   +1 more source

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

open access: yesPhotochemistry and Photobiology, Volume 102, Issue 5, Page 1138-1149, September/October 2026.
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   +3 more
wiley   +1 more source

Case Reports A case of ataxia telangiectasia

open access: yes, 2014
Ataxia telangiectasia (AT) is an autosomal recessive, complex, multisystem disorder characterized by progressive neurological impairment, cerebellar ataxia ...
S Jeyabalan, Savithri Dias
core  

Familial Ataxia-telangiectasia [PDF]

open access: yesArchives of Disease in Childhood, 1961
J D, Pickup, R J, Pugh
openaire   +2 more sources

Ataxia-Telangiectasia in Italy: Genetic Analysis.

open access: yes, 1994
Lisa A, Zei G, Chessa L, Fiorani O
core  

Home - About - Disclaimer - Privacy