Ataxia telangiectasia

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.

October 17, 2021
Open Access

Structure of the human ATM kinase and mechanism of Nbs1 binding

BioRxiv : the Preprint Server for Biology
C. Warren, Nikola P Pavletich
October 16, 2021

Germline Variants Identified in Patients with Early-onset Renal Cell Carcinoma Referred for Germline Genetic Testing.

European Urology Oncology
Hong TruongMaria I Carlo
October 16, 2021

Inherited Mutations in Chinese Men With Prostate Cancer.

Journal of the National Comprehensive Cancer Network : JNCCN
Yao ZhuDingwei Ye
October 15, 2021

The molecular characteristics of high-grade gastroenteropancreatic neuroendocrine neoplasms.

Endocrine-related Cancer
Andreas VenizelosStian Knappskog
October 14, 2021

A Tale of Two Checkpoints: ATR Inhibition and PD-(L)1 Blockade.

Annual Review of Medicine
Natalie Y L NgoiTimothy A Yap
October 13, 2021

A pleiotropic ATM variant (rs1800057 C>G) is associated with risk of multiple cancers.

Danwen QianQingyi Wei
October 13, 2021

Penetrance of male breast cancer susceptibility genes: a systematic review.

Breast Cancer Research and Treatment
Reem S ChamseddineKevin S Hughes
October 13, 2021

An anaplerotic approach to correct the mitochondrial dysfunction in ataxia-telangiectasia (A-T).

Molecular Metabolism
A J YeoM F Lavin
October 13, 2021

Concurrent pathogenic variations in patients with hereditary cancer syndromes.

European Journal of Medical Genetics
Nihat Bugra Agaoglu, Levent Doganay
October 13, 2021

The CADM1 tumor suppressor gene is a major candidate gene in MDS with deletion of the long arm of chromosome 11.

Blood Advances
Marina Lafage-PochitaloffEric Delabesse
October 12, 2021
Open Access

TRAIP regulates DNA double-strand break-induced ATM activation

BioRxiv : the Preprint Server for Biology
T. GleichDaniel Hohl
October 11, 2021

Genetic Risk Variants for Class Switching Recombination Defects in Ataxia-Telangiectasia Patients.

Journal of Clinical Immunology
Parisa AmirifarAsghar Aghamohammadi
October 9, 2021

Novel Models of Genetic Education and Testing for Pancreatic Cancer Interception: Preliminary Results from the GENERATE Study.

Cancer Prevention Research
C Sloane FurnissSapna Syngal
October 8, 2021
Open Access

A Novel Mechanism of Ataxia Telangiectasia Mutated Mediated Regulation of Chromatin Remodeling in Hypoxic Conditions.

Frontiers in Cell and Developmental Biology
Maria LikhatchevaKaye J Williams

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