Results 11 to 20 of about 117,669 (273)

UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors [PDF]

, 2020
Genomic instability can be a hallmark of both human genetic disease and cancer. We identify a deleterious UBQLN4 mutation in families with an autosomal recessive syndrome reminiscent of genome instability disorders.
Beleggia, Filippo, Bustos, Matias A., Checa Rodríguez, Cintia, Goergens, Jonas, Huertas Sánchez, Pablo, Isensee, Jörg, Jachimowicz, Ron D., Velpula, Bhagya Bhavana   +7 more
core   +1 more source

CONSTITUTIONAL MISSMATCH DEFECT REPAIR DISORDER (CMMRD) IN PEDIATRIC HIGH GRADE GLIOMA

Hematology, Transfusion and Cell Therapy, 2021
Objective: Pediatric high grade gliomas(HGG) have dismal prognosis with median survival of 9-15 months after standard radio-chemptherapy. Recent molecular investigations revealed a missmatch repair defect called Constitutional Mismatch Repair Deficiency (
Bahattin Tanrıkulu, Ayça Erşen Danyeli, Cengiz Canpolat, M. Memet Özek   +3 more
doaj   +1 more source

Clinical measurement of cellular DNA damage hypersensitivity in patients with DNA repair defects

Orphanet Journal of Rare Diseases, 2022
Background DNA repair deficiency disorders are rare inherited diseases arising from pathogenic (disease-causing) variants in genes involved in DNA repair.
Ola Hammarsten, Anna Lyytikäinen, Sofia Thunström, Torben Ek, Anders Fasth, Olov Ekwall, Sara Cajander, Emilie Wahren Borgström, C. I. Edvard Smith, Pegah Johansson   +9 more
doaj   +1 more source

DNA repair: Disorders [PDF]

, 2010
No description ...
Bose, Burg, Caldecott, Chu, Digweed, Fernandez-Capetillo, Fousteri, Fousteri, Friedberg, Gudmundsdottir, Hashimoto, Hoeijmakers, Jiricny, Kraemer, Lavin, Lehmann, Lieber, Ma, Masutani, McCulloch, Meindl, Moldovan, Moshous, Nance, Nouspikel, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Rass, Stefanini, Stewart, Stracker, Taylor, Vaz, Wu, Zlatanou   +36 more
core   +1 more source

Function and Interactions of ERCC1-XPF in DNA Damage Response

Molecules, 2018
Numerous proteins are involved in the multiple pathways of the DNA damage response network and play a key role to protect the genome from the wide variety of damages that can occur to DNA.
Maryam Faridounnia, Gert E. Folkers, Rolf Boelens   +2 more
doaj   +1 more source

DNA Checkpoint and Repair Factors Are Nuclear Sensors for Intracellular Organelle Stresses-Inflammations and Cancers Can Have High Genomic Risks. [PDF]

, 2018
Under inflammatory conditions, inflammatory cells release reactive oxygen species (ROS) and reactive nitrogen species (RNS) which cause DNA damage. If not appropriately repaired, DNA damage leads to gene mutations and genomic instability.
Chen, Hongping, Choi, Eric T., Cueto, Ramon, Drosatos, Konstantinos, Fu, Hangfei, Nanayakkara, Gayani K, Park, Joon Y., Qin, Xuebin, Shao, Lijian, Shao, Ying, Sheng, Haitao, Sun, Jianxin, Sun, Yu, Wang, Hong, Wang, Luqiao, Wu, Na, Yang, Qian, Yang, William Y, Yang, Wuping, Yang, Xiaofeng, Zeng, Huihong, Zhu, Qingxian   +21 more
core   +2 more sources

Aicardi–Goutières syndrome with SAMHD1 deficiency can be diagnosed by unscheduled DNA synthesis test

Frontiers in Pediatrics, 2022
Aicardi–Goutières syndrome (AGS) is a rare genetic disorder characterised by progressive encephalopathy, involving microcephaly, intracranial calcification, and cerebrospinal fluid lymphocytosis with increased interferon-α concentrations.
Chikako Senju, Chikako Senju, Chikako Senju, Chikako Senju, Chikako Senju, Yuka Nakazawa, Yuka Nakazawa, Yuka Nakazawa, Mayuko Shimada, Mayuko Shimada, Mayuko Shimada, Dai Iwata, Dai Iwata, Michiko Matsuse, Katsumi Tanaka, Yasushi Miyazaki, Shinichi Moriwaki, Norisato Mitsutake, Tomoo Ogi, Tomoo Ogi, Tomoo Ogi   +20 more
doaj   +1 more source

Congenital microcephaly [PDF]

, 2014
The underlying etiologies of genetic congenital microcephaly are complex and multifactorial. Recently, with the exponential growth in the identification and characterization of novel genetic causes of congenital microcephaly, there has been a ...
Agha, Ahmad, Arai, Banin, Bettencourt-Dias, Bicknell, Bicknell, Bolanos-Garcia, Bond, Bongers, Buchman, Caldecott, Caldecott, Capo-Chichi, Carney, Casey, Cimprich, Cizmecioglu, Croteau, Dehay, Dehay, Deriano, Domchek, Fish, Gatz, Gellert, Genin, Gilmore, Gineau, Gorlin, Griffith, Gruber, Guernsey, Han, Hanks, Heldin, Hemerly, Herzog, Heyer, Hickson, Hinchcliffe, Hughes, Issa, Jaglin, Jamieson, Kang, Kee, Kerzendorfer, Kim, Kiyomitsu, Kiyomitsu, Koch, Kumagai, Kuo, Lancaster, Lavin, Lee, Lee, Lee, Lobrich, Loveday, Loveday, Mahmood, Maréchal, Matsumoto, Matsuoka, Matsuura, Meindl, Mimitou, Mirzaa, Miyoshi, Miyoshi, Moldovan, Morris-Rosendahl, Moshous, Moynahan, Murga, Murray, Musacchio, Mühlhans, Noguchi, Novorol, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Ogi, Orii, Pilaz, Poirier, Ponting, Qvist, Rakic, Rauch, Riballo, Romaniello, Roos, Rudner, Schneider, Shah, Shaheen, Shaheen, Shamseldin, Shen, Shiloh, Sir, Sirbu, Sokka, Spalding, Spassky, Stewart, Stiff, Stokes, Symington, Tan, Thornton, van der Burg, van der Lelij, Varon, Verloes, Walczak, Waltes, Weedon, Weinfeld, Woodbine, Woods, Wu, Zimmerman   +129 more
core   +1 more source

Putative Roles of SETBP1 Dosage on the SET Oncogene to Affect Brain Development

Frontiers in Neuroscience, 2022
Mutations in SET BINDING PROTEIN 1 (SETBP1) cause two different clinically distinguishable diseases called Schinzel–Giedion syndrome (SGS) or SETBP1 deficiency syndrome (SDD).
Lilit Antonyan, Carl Ernst
doaj   +1 more source

CoQ10 and Aging. [PDF]

, 2019
The aging process includes impairment in mitochondrial function, a reduction in anti-oxidant activity, and an increase in oxidative stress, marked by an increase in reactive oxygen species (ROS) production.
Barcelos, Isabella Peixoto de, Haas, Richard H   +1 more
core   +1 more source