Results 61 to 70 of about 35,381 (234)

Hashimoto thyroiditis associated with ataxia telangiectasia

, 2012
Ataxia telangiectasia is a rare genetic disease characterized by neurological manifestations, infections, and cancers. In addition to these cardinal features, different autoimmune diseases can be seen in patients with ataxia telangiectasia.
Ünal, Ekrem, Patıroğlu, Tahir, Kurtoglu, Selim, Yıkılmaz, Ali, Patıroğlu, Türkan, Güngör, Hatice Eke   +5 more
core   +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

Effects of Acetyl-DL-Leucine on Ataxia and Downbeat-Nystagmus in Six Patients With Ataxia Telangiectasia.

, 2022
BACKGROUND There is no authorized treatment for ataxia telangiectasia (AT). As cerebellar symptoms of storage diseases were improved by acetyl-DL-leucine (ADLL), the authors hypothesized a symptomatic and disease-modifying effect in AT upon ...
Kerkeni, Hassen, Goeldlin, Martina, Brueggemann, Adriana, Mohaupt, Markus, Bicvic, Antonela, Abegg, Mathias, Kalla, Roger, Kolníková, Miriam, Mantokoudis, Georgios, Bremova-Ertl, Tatiana   +9 more
core   +1 more source

Cold atmospheric plasma‐mediated tumor microenvironment remodeling for cancer treatment

BMEMat, EarlyView.
Schematic presentation of CAP‐mediated TME remodeling. This review summarizes recent efforts in cold atmospheric plasma (CAP) application in cancer treatment, highlighting the anticancer potential of CAP, molecular mechanisms, and future perspectives for further improvement and clinical translation.
Israr Khan, Qiujie Fang, Cao Fei, Ziyuan Wang, Zhaowei Chen, Guojun Chen, Zhiming Xu, Shu Xu, Zhitong Chen   +8 more
wiley   +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

ATM (ataxia telangiectasia mutated) [PDF]

, 1999
Review on ATM (ataxia telangiectasia mutated), with data on DNA, on the protein encoded, and where the gene is ...
JO Bay, Uhrhammer, N, RA Gatti, N Uhrhammer, Bay, JO, Gatti, RA   +5 more
core   +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

ATM (ataxia telangiectasia mutated) [PDF]

, 1998
Review on ATM (ataxia telangiectasia mutated), with data on DNA, on the protein encoded, and where the gene is ...
Huret, JL
core   +1 more source

Oocyte–cumulus cell interaction: a key factor in early embryo development

Biological Reviews, EarlyView.
ABSTRACT The evaluation of oocyte competence is a fundamental step in achieving successful outcomes following assisted reproduction techniques (ART). At present, however, conventional oocyte maturation assessment is carried out by morphological observation, which is a subjective method that does not consider molecular features.
Marc Torres‐Garrido, Marc Yeste, Yentel Mateo‐Otero   +2 more
wiley   +1 more source

Aspectos diagnósticos, moleculares y terapéuticos de la ataxia telangiectasia Diagnostic, mollecular and therapeutic aspects of ataxia telangiectasia

Revista Cubana de Hematología, Inmunología y Hemoterapia, 2003
La ataxia telangiectasia es una enfermedad multisistémica causada por mutaciones en el gen de la ataxia telangiectasia mutado (ATM), localizado en el locus 11 q22-23, que dan lugar a deficiencias en la expresión de la proteína de la ataxia telangiectasia
Vianed Marsán Suárez, Lázaro O del Valle Pérez, Miriam Sánchez Segura, Consuelo Macías Abraham   +3 more
doaj