Results 61 to 70 of about 46,967 (195)

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

Nanomedicine‐driven innovations in postoperative cancer immunotherapy: Remodeling tumor microenvironment and precision delivery strategies

BMEMat, EarlyView.
Nanomedicine‐Driven Strategies for Suppressing Postoperative Tumor Recurrence. This schematic illustrates three pivotal nanomedical strategies that synergistically counteract recurrence by targeting residual disease and the immunosuppressive tumor microenvironment within the surgical cavity.
Lisong Pang, Zhuomin Wang, Zhenhua Jin, Ahmed H. Ghonaim, Hengcheng Zhang, Xinyu You, Jinzhuo Ning, Jiaqing Cao, Yang Liu   +8 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

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

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

Repurposing Drugs for Malaria through a Human Dose Prediction: A Case Study with Berzosertib

Clinical Pharmacology &Therapeutics, EarlyView.
Repurposing drugs whose clinical safety has been established offers a valuable approach to reduce the cost and time associated with the development of new drugs for malaria. Here, we investigate the potential to repurpose the anticancer kinase inhibitor berzosertib for the treatment of malaria, by assessing whether a predicted efficacious human dose ...
Devasha Redhi, Mwila Mulubwa, Mmakwena M. Mmonwa, Mathew Njoroge, Liezl Krugmann, Kelly Chibale   +5 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  

A rad50 germline mutation induces tumorigenesis and ataxia-telangiectasia phenotype in a transparent medaka model

PLoS ONE, 2023
The MRE11A-RAD50-NBS1 complex activates the ataxia-telangiectasia mutated (ATM) pathway and plays a central role in genome homeostasis. The association of RAD50 mutations with disease remains unclear; hence, we adopted a medaka rad50 mutant to ...
Shinichi Chisada, Kouki Ohtsuka, Masachika Fujiwara, Masao Yoshida, Satsuki Matsushima, Takashi Watanabe, Kanae Karita, Hiroaki Ohnishi   +7 more
doaj  

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

Impaired endoplasmic reticulum-mitochondrial signaling in ataxia-telangiectasia

, 2021
There is evidence that ATM mutated in ataxia-telangiectasia (A-T) plays a key role in protecting against mitochondrial dysfunction, the mechanism for which remains unresolved.
Lavin, MF, Yeo, AJ, Chong, KL, Wolvetang, E, Zou, D, Kastan, MB, Gatei, M, Withey, S, Brown, AD, Parton, RG, Stewart, R, Coman, D   +11 more
core   +1 more source