Results 61 to 70 of about 77,321 (235)

Tumor germinal mixto con componentes de disgerminoma y coriocarcinoma de ovario en mujer adolescente con ataxiatelangiectasia

Acta Pediátrica de México, 2015
Antecedentes: la ataxia-telangiectasia es una enfermedad hereditaria con patrón de herencia autosómico recesivo. Se caracteriza por deterioro neurológico, telangiectasias e inmunodeficiencia.
Eduardo Augusto Gálvez-Cuitiva, Cecilia Ridaura-Sanz, Marco Antonio Yamazaki-Nakashimada, Carlos Leal-Leal, Marta Zapata-Tarrés   +4 more
doaj   +1 more source

The hallmarks of aging in Ataxia-Telangiectasia

Ageing Research Reviews, 2022
Ataxia-telangiectasia (A-T) is caused by absence of the catalytic activity of ATM, a protein kinase that plays a central role in the DNA damage response, many branches of cellular metabolism, redox and mitochondrial homeostasis, and cell cycle regulation.
Aguado, Julio, Gómez-Inclán, Cecilia, Leeson, Hannah C., Lavin, Martin F., Shiloh, Yosef, Wolvetang, Ernst J.   +5 more
openaire   +4 more sources

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

Ataxia Telangiectasia: A Case Report

, 2017
Ataxia telangiectasia (AT) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and occulo-cutaneous telangiectasia.
SC Mojumder, Mohammad Sayeed Hassan, Ferdous Ara, Sheikh Farjana Sonia, Abdullah Yusuf   +4 more
core   +1 more source

Loss of CD98HC phosphorylation by ATM impairs antiporter trafficking and drives glutamate toxicity in Ataxia telangiectasia

Nature Communications
Ataxia-telangiectasia is a rare genetic disorder characterized by neurological defects, immunodeficiency, cancer predisposition, radiosensitivity, decreased blood vessel integrity, and diabetes. ATM, the protein mutated in Ataxia-telangiectasia, responds
July Carolina Romero, Sonal S. Tonapi, Manish Parihar, Eva Loranc, Henry E. Miller, Liesl A. Lawrence, Nicklas Bassani, Daniel G. Robledo, Lin Cao, Jia Nie, Kairi Kanda, Aiola Stoja, Natalia Garcia, Aparna Gorthi, Brian J. Stoveken, Teresa W-M Fan, Teresa A. Cassel, Shan Zha, James D. Lechleiter, Nicolas Musi, Lily Q. Dong, Andrew N. Lane, Alexander J. R. Bishop   +22 more
doaj   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Ataxia-telangiectasia-like disorder-1 with ocular telangiectasia — A rare case report from India

Annals of Movement Disorders
Ataxia-telangiectasia-like disorder-1 (ATLD-1) is an autosomal recessive disorder that is classified as a chromosomal instability syndrome. It is caused by the homozygous or compound heterozygous variants of the MRE11 gene, which repairs the double ...
Anjali Chouksey
doaj   +1 more source

Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report

BMC Medical Genomics, 2021
Background Ataxia-telangiectasia is a rare autosomal recessive, neurodegenerative disorder caused by alterations in the ATM gene. The majority of ATM pathogenic variants are frameshift or nonsense variants which are predicted to truncate the whole ATM ...
Hoo Young Lee, Dae-Hyun Jang, Jae-Won Kim, Dong-Woo Lee, Ja-Hyun Jang, Joungsu Joo   +5 more
doaj   +1 more source

Glycosylated dendrimer nanoamplifiers hijack DNA damage‐immune crosstalk for enhanced dual‐track therapy of orthotopic glioblastoma

BMEMat, EarlyView.
A glycosylated dendrimer nanoamplifier hijacks DNA damage‐immune crosstalk for enhanced radio‐immunotherapy of glioblastoma. The responsive release of demethylcantharidin simultaneously blocks repair‐mediated resistance by inhibiting DNA repair and overcomes adaptive immune resistance.
Cong Song, Binghan Liu, Junjie Liu, Ce Li, Wenqing Man, Xurui Sun, Chang Yuan, Yanjun Wang, Hong Pan, Shuanglian Wang, Zhiming Zheng   +10 more
wiley   +1 more source

Clinical Association of Ataxia Telangiectasia-Like Disorder 1 with an Uncertain Significance Variant in the MRE11 Gene: A Case Report [PDF]

Reviews in Clinical Medicine
Objective: Ataxia telangiectasia-like disorder (ATLD) is a rare autosomal recessive disorder caused by mutations in the MRE11 gene. The diagnosis of patients with Ataxia telangiectasia-like disorder and Ataxia telangiectasia may be challenging due to ...
Bita Barazandeh Shirvan, Javad Akhondian, Parvaneh Layegh, Narges Hashemi, Ehsan Ghayoor Karimiani, Razie Rezaie, Paria Najarzadeh Torbati, mehran beiraghi toosi   +7 more
doaj   +1 more source