Ataxia telangiectasia (MDS)

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.

July 28, 2020
Open Access

NBS1-CtIP-Mediated DNA End Resection Regulates cGAS Binding to Micronuclei

BioRxiv : the Preprint Server for Biology
S. AbdisalaamAsaithamby Aroumougame
July 30, 2020

ATR Signaling in Mammalian Meiosis: From Upstream Scaffolds to Downstream Signaling

Environmental and Molecular Mutagenesis
Catalina PereiraMiguel A Brieño-Enríquez
August 1, 2020

De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies

Journal of the Neurological Sciences
Misako KuniiFumiaki Tanaka
August 4, 2020

Complete loss of ATM function augments replication catastrophe induced by ATR inhibition and gemcitabine in pancreatic cancer models

British Journal of Cancer
Charles R DunlopDuncan I Jodrell
July 30, 2020

Pathogenic ATM Mutations in Cancer and a Genetic Basis for Radiotherapeutic Efficacy

Journal of the National Cancer Institute
Kenneth L PitterJeremy Setton
July 23, 2020

Different eGFR Decline Thresholds and Renal Effects of Canagliflozin: Data from the CANVAS Program

Journal of the American Society of Nephrology : JASN
Megumi OshimaVlado Perkovic
August 2, 2020

Clinicopathologic features of kinase fusion-related thyroid carcinomas: an integrative analysis with molecular characterization

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
Ying-Hsia ChuPeter M Sadow
July 23, 2020

Genomic and Clinical-Pathologic Characterization of ATM -deficient Prostate Cancer

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
Harsimar KaurTamara L Lotan
July 28, 2020

Identifying germline APOBEC3B deletion and immune phenotype in Korean patients with operable breast cancer

Breast Cancer Research and Treatment
Se Hyun KimJee Hyun Kim
August 1, 2020

Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review

The Cerebellum
Don Gueu ParkJung Han Yoon
August 4, 2020

Heart failure and diabetes: role of ATM

Current Opinion in Pharmacology
Mary C WingardKrishna Singh

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