Results 71 to 80 of about 53,964 (227)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 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

DNA repair, DNA replication and human disorders: A personal journey [PDF]

, 2012
I was born in 1946 and grew up in the industrial north-west of England close to the city of Manchester. My parents were German- Jewish refugees, who left Germany fairly early, in 1933.
Alan R. Lehmann, Barnes, Barnes, Bienko, Bohr, Broughton, Burk, Carr, Cleaver, Cordonnier, Daigaku, Domon, Edmunds, Fenech, Fousteri, Gebara, Griffiths, Henderson, Hirano, Hoege, Johnson, Kannouche, Kannouche, Kannouche, Karras, Kleijer, Lee, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lehmann, Lett, Ley, Masutani, Mayne, McDonald, McGrath, Mellon, Murray, Murray, Nduka, Ogi, Okazaki, Palecek, Phipps, Regan, Rupp, Rupp, Saitoh, Savitsky, Schaeffer, Schmickel, Sergeant, Setlow, Stefanini, Strunnikov, Taylor, Taylor, Taylor, Teo, Tissier, Tsukada, van Duin, Venema, Weber   +75 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

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

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