Results 1 to 10 of about 39,927 (110)

Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models [PDF]

, 2014
This article has been made available through the Brunel Open Access Publishing Fund.Background: Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by GAA repeat expansion in the first intron of the FXN gene, which encodes
A Durr, A Filla, A Halabi, A Hick, A Rotig, A Wong, AH Koeppen, AL Bulteau, AM Khalil, Annalisa Pastore, BL Sopher, C Gellera, C Sandi, CH Zuhlke, Chiranjeevi Sandi, D Marmolino, D Marmolino, D Waldvogel, DH Cho, DW Chung, E Greene, F Foury, G Coppola, G Tan, GS Chandok, H Holemon, H Puccio, H Puccio, H Van Remmen, Harvinder Jassal, I Castaldo, I De Biase, I De Biase, J Du, J Liu, J St-Pierre, JB Schulz, JH Willis, JL Bradley, JL García-Giménez, JP Sarsero, L Grant, L Montermini, L Pianese, L Schols, M Anheim, M Cossee, M Pandolfo, M Perdomini, MA Pook, Madhavi Sandi, Mark A. Pook, ML Moseley, MM Heidari, MM Lufino, MV Evans-Galea, MV Evans-Galea, N Calmels, N Sakamoto, PD Ladd, R Sharma, RA Vaubel, RL Bourn, RM Clark, S Al-Mahdawi, S Al-Mahdawi, S Al-Mahdawi, S Al-Mahdawi, S Ku, Sahar Al-Mahdawi, Sara Anjomani-Virmouni, SW Levison, T Geng, V Campuzano, V Campuzano, V Ezzatizadeh, Vahid Ezzatizadeh, Y Shan   +77 more
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The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model [PDF]

, 2012
Copyright @ 2012 Elsevier. The article can be accessed from the link below.This article has been made available through the Brunel Open Access Publishing Fund.Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a ...
Al-Mahdawi, S, Ezzatizadeh, V, Pinto, RM, Pook, MA, Sandi, C, Sandi, M, Te Riele, H   +6 more
core   +1 more source

An Escherichia coli effector protein promotes host mutation via depletion of DNA mismatch repair proteins. [PDF]

, 2013
Enteropathogenic Escherichia coli (EPEC) is an attaching and effacing (A/E) human pathogen that causes diarrhea during acute infection, and it can also sustain asymptomatic colonization. A/E E.
Donnenberg, Michael S., Maddocks, Oliver David Kenneth, Scanlon, Karen Mary   +2 more
core   +1 more source

Extended microsatellite analysis in microsatellite stable, MSH2 and MLH1 mutation-negative HNPCC patients: Genetic reclassification and correlation with clinical features [PDF]

, 2004
Background: Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant disorder predisposing to predominantly colorectal cancer (CRC) and endometrial cancer frequently due to germline mutations in DNA mismatch repair (MMR) genes, mainly ...
Baretton, G., Daum, J., Gross, M., Holinski-Feder, E., Kopp, R., Lohse, P., Muders, M., Mussack, T., Müller-Koch, Y., Schiemann, Uwe   +9 more
core   +1 more source

Signalling cell cycle arrest and cell death through the MMR System [PDF]

, 2006
Loss of DNA mismatch repair (MMR) in mammalian cells, as well as having a causative role in cancer, has been linked to resistance to certain DNA damaging agents including clinically important cytotoxic chemotherapeutics.
Brown, R., O'Brien, V.
core   +1 more source

Aberrant Polycystin-1 Expression Results in Modification of Activator Protein-1 Activity, whereas Wnt Signaling Remains Unaffected [PDF]

, 2004
Polycystin-1, the polycystic kidney disease 1 gene product, has been implicated in several signaling complexes that are known to regulate essential cellular functions. We investigated the role of polycystin-1 in Wnt signaling and activator protein-1 (
Arnould, Bhunia, Duyndam, Giles, Grotewold, Huan, Kim, Kimberling, Kugoh, Loghman-Adham, Löhning, Morin, Moser, Muto, Newby, Ouwens, Parnell, Peters, Pritchard, Rivat, Rodova, Saadi-Kheddouci, Scheffers, Shaulian, Smits, Sorenson, Spaargaren, Streets, Sutters, Trudel, Upadhya, van Adelsberg, van Dam, van Dam, van Dam, van Dam, van de Wetering, van de Wetering   +37 more
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Expression of the DNA mismatch repair proteins hMLH1 and hPMS2 in normal human tissues. [PDF]

, 1997
hMLH1 and hPMS2 are part of the DNA mismatch repair complex. Mutations in these genes have been linked to hereditary non-polyposis colon cancer; they also occur in a variety of sporadic cancers. Western blot analysis and immunohistochemistry demonstrated
Aebi, S, Christen, RD, Fink, D, Howell, SB, Kim, HK, Nebel, S, Zheng, H   +6 more
core   +1 more source

Germline and Somatic DNA Damage Repair Gene Mutations and Overall Survival in Metastatic Pancreatic Adenocarcinoma Patients Treated with FOLFIRINOX [PDF]

, 2018
Purpose: Pancreatic ductal adenocarcinoma (PDAC) is a lethal cancer with lack of predictive biomarkers. We conducted a study to assess DNA damage repair (DDR) gene mutations as a predictive biomarker in PDAC patients treated with FOLFIRINOX ...
Gbolahan, Olumide, Hancock, Brad A., O'Neil, Bert H., Radovich, Milan, Sehdev, Amikar, Shahda, Safi, Stanley, Melissa, Wan, Jun, Wu, Howard H.   +8 more
core   +1 more source

Estradiol regulates miR-135b and mismatch repair gene expressions via estrogen receptor-β in colorectal cells. [PDF]

, 2012
Estrogen has anti-colorectal cancer effects which are thought to be mediated by mismatch repair gene (MMR) activity. Estrogen receptor (ER) expression is associated with microRNA (miRNA) expression in ER-positive tumors.
Fu, Lei, He, Yu-qi, Jin, Peng, Ling, Xian-long, Rao, Jianyu, Sheng, Jian-qiu, Yen, Lawrence   +6 more
core   +1 more source

Immunophenotype of Atypical Polypoid Adenomyoma of the Uterus: Diagnostic Value and Insight on Pathogenesis [PDF]

, 2020
Atypical polypoid adenomyoma (APA) is a rare uterine lesion constituted by atypical endometrioid glands, squamous morules, and myofibromatous stroma. We aimed to assess the immunophenotype of the 3 components of APA, with regard to its pathogenesis and ...
Aggarwal, Ayhan, Chiarelli, Di Palma, Fukunaga, Giampaolino, Heatley, Horita, Houghton, Jiang, Kuwashima, Lin, Longacre, Lu, Ma, Mazur, McAlpine, McCluggage, McCluggage, Moher, Nei, Nomura, Nomura, Němejcová, Ohishi, Ota, Raffone, Raffone, Raffone, Raffone, Raffone, Raffone, Ramos, Stelloo, Strickland, Takahashi, Talhouk, Terada, Travaglino, Travaglino, Travaglino, Travaglino, Travaglino, Travaglino, Travaglino, Young, Zhang   +46 more
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