Results 51 to 60 of about 30,315 (187)

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

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  

Accurate diagnostics of ataxia-telangiectasia cellular phenotype by employing in vitro lymphocyte radiosensitivity testing [PDF]

Nuclear Technology and Radiation Protection, 2013
In this paper we present the data of lymphocyte radiosensitivity testing used for characterization of radiosensitive cellular phenotype and diagnostics of ataxia-telangiectasia disease. We point out the advantage of lymphocyte micronucleus test (CBMN)
Vujić Dragana S., Petrović Sandra Ž., Leskovac Andreja R., Joksić Ivana D., Filipović Jelena G., Valenta-Šobot Ana P.   +5 more
doaj   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Tumor‐Regional Immune Microenvironment: A Critical Factor in the Design of Radiotherapy–Immunotherapy Combination Trials

International Journal of Cancer, EarlyView.
ABSTRACT Clinical trials combining radiotherapy (RT) with immune checkpoint blockade (ICB) have shown improved outcomes in only a fraction of patients, and optimal strategies for integrating these modalities remain under intense investigation. With a few exceptions, phase III combination trials have yielded disappointing results.
Xuanwei Zhang, Hui Wang, Weiyan Tang, Kai Kang, Kateryna Onyshchenko, Taotao Huang, Dan Liu, Jianxin Xue, You Lu, Gabriele Niedermann, Ren Luo   +10 more
wiley   +1 more source

Pancreatic Cancer Early Detection Biomarkers for High‐Risk Individuals: Insights From the PRECEDE Consortium

International Journal of Cancer, EarlyView.
ABSTRACT Pancreatic ductal adenocarcinoma (PDAC) remains one of the deadliest cancers due to its asymptomatic progression, late‐stage diagnosis, and treatment resistance. Efforts in early detection have centered on identifying imaging features and liquid biopsy biomarkers capable of detecting PDAC and its high‐grade precursors before clinical symptoms ...
Christine Worthington, Maria Raitses‐Gurevich, Giulio Innamorati, Phil A. Hart, Thomas M. Wilkie, Noam Tau, Dana Brin, Doron Yablecovitch, Ido Laish, Dove Keith, Kurt Giles, Jennifer B. Permuth, Diane M. Simeone, George Zogopoulos, Randall E. Brand, John J. Graff, Julie Earl, On behalf of the PRECEDE Consortium, Nikhil Agarwal, Laufey Amundadottir, Michelle Anderson, Ajay Bansal, Todd Bauer, Georg Beyer, Yan Bi, Erkut Borazanci, Randy Brand, Teri Brentnall, Carol Burke, Darren Carpizo, Saurabh Chawla, Daniel Chung, Sourat Darabi, Michael Demeure, Timothy Donahue, Julie Earl, Whitney Espinel, James Farrell, Vigdís Fjóla Stefánsdóttir, Jared Forrester, Eitan Friedman, Paul Franklin, Srinivas Gaddam, Ana García García de Paredes, Steven Gallinger, Talia Golan, Ora Gordon, Robert Grant, William Greenhalf, Eli Marie Grindedal, Aaron Grossberg, Brenda Hafers, Heather Hannon, Sigurdís Haraldsdóttir, Stefán Haraldsson, Peter Hegyi, Melissa Hogg, Amy de Haar‐Holleman, Susan Hong, Greg Idos, Edward Kim, Fay Kastrinos, Bryson Katona, Vivek Kaul, Derk Klatte, Kelsey Klute, Kimberly Ku, Sonia Kupfer, Rich Kwon, Rosario Ligresti, James James Lin, Wei‐Chih (David) Liao, Aimee Lucas, Nipun Merchant, Andrew Metz, Whitney Maxwell, James McLoughlin, Sodech Miclette, Xavier Molero, Leticia Moreira, Takuji Okusaka Chigusa Morizane, Joanne Ngeow, Salvatore Paiella, Jennifer Permuth, Maricel Purcell, Joshua Raff, Vineet Rolston, Intan Schrader, Rosie Sears, Yan‐Shen Shan, Diane Simeone, Jens Siveke, Brett Sheppard, Tyler Stevens, Elena Stoffel, Dan Sussman, Margaret Tempero, Jose Trevino, Jennifer Valerin, Eva Vaquero, Ray Wadlow, Garrett Ward, David Weinberg, Ronald Wolf, Dana Zakalik, George Zogopoulos   +105 more
wiley   +1 more source

Advances in Immunological Combination Therapy for Colorectal Cancer

iMetaMed, EarlyView.
Review the progress of combined immunotherapy for colorectal cancer. ABSTRACT Immune checkpoint inhibitors (ICIs) have been utilized extensively and shown to be therapeutically beneficial in the treatment of solid tumors in recent years. Nonetheless, considerable heterogeneity in Colorectal cancer (CRC) requires careful consideration.
Jiayue Wu, Rongbo Wen, Tianshuai Zhang, Fuao Cao, Xiaoming Zhu, Liqiang Hao, Wei Zhang, Guanyu Yu   +7 more
wiley   +1 more source

Strategies and mechanisms of precision genome engineering: From gene editing to genome writing

iMetaOmics, EarlyView.
In this review, we examined the progression of genome manipulation from stochastic nuclease‐mediated cutting toward precise editing and programmable genome writing. We discussed tools like multi‐kilobase RNA‐guided integrators and Artificial Intelligence (AI)‐designed effectors and showed how these advances enable researchers to treat genomes as ...
Kerui Huang, Jianhong Tian, Wenyan Zhao, Siqin Zhang, Lixuan Xiang, Meiqing Yang, Lu Liu, Yazhou Huang, Ningyun Zhang, Lei Sun, Peng Xie, Nanyu Kuang, Hong Zhou, Chengfeng Qiu, Jun Yan, Xiaocheng Jiang, Qiang Tu, Yun Wang, Haoliang Hu, Youming Zhang   +19 more
wiley   +1 more source

Case Presentation: Large Diffuse B-cell Lymphoma Developing in the Context of Primary Immunodeficiency

Çocuk Dergisi
Ataxia Telangiectasia (AT) is a rare, autosomal recessive neurodegenerative disorder characterized by immunodeficiency. Clinically, it is known to be associated with progressive cerebellar ataxia starting in early childhood, oculocutaneous telangiectasia,
Hikmet Gülşah Tanyıldız, Hasan Atalay Tuncay, Şifa Şahin, Yasin Yılmaz, Serap Karaman   +4 more
doaj   +1 more source