Results 91 to 100 of about 42,200 (256)

Saccharomyces cerevisiae MSH2–MSH3 and MSH2–MSH6 Complexes Display Distinct Requirements for DNA Binding Domain I in Mismatch Recognition [PDF]

Journal of Molecular Biology, 2007
In eukaryotic mismatch repair (MMR) MSH2-MSH6 initiates the repair of base-base and small insertion/deletion mismatches while MSH2-MSH3 repairs larger insertion/deletion mismatches. Here, we show that the msh2Delta1 mutation, containing a complete deletion of the conserved mismatch recognition domain I of MSH2, conferred a separation of function ...
Susan D, Lee, Jennifer A, Surtees, Eric, Alani   +2 more
openaire   +2 more sources

Treatment Response and Outcomes of Prostate Cancer Patients Carrying the Germline MMS22L F722fs Mutation

The Prostate, EarlyView.
ABSTRACT Background Methyl Methanesulfonate‐Sensitivity Protein 22‐Like (MMS22L) plays a key role in homology‐directed DNA repair, and experimental models have shown that its loss confers sensitivity to Poly (ADP‐ribose) polymerase inhibitors (PARPi).
Mayuko Kanayama, Violet A. Daniels, Marta Gielzak, Alex Brame, Misop Han, Li Jia, Jianfeng Xu, Tamara L. Lotan, Mario A. Eisenberger, Catherine H. Marshall, Patrick C. Walsh, William B. Isaacs, Jun Luo   +12 more
wiley   +1 more source

DNA repair proteins may differentiate papillary thyroid cancer from chronic lymphocytic thyroiditis and nodular colloidal goiter

Scientific Reports, 2021
Malignant thyroid lesions are the most common malignancy of the endocrine glands with increasing rates in the last two decades. Papillary thyroid cancer is the most common thyroid malignancy.
Bahri Evren, Sami Yılmaz, Neşe Karadağ, Ayşe Çıkım Sertkaya, Ömercan Topaloğlu, Faruk Kılınç   +5 more
doaj   +1 more source

A Novel Mutation of MSH2 Gene in a Patient with Lynch Syndrome Presenting with Thirteen Metachronous Malignancies [PDF]

, 2023
Ugnė Šilinskaitė, Edita Gavelienė, Rokas Stulpinas, Ramūnas Janavičius, Tomas Poškus   +4 more
openalex   +1 more source

Identification of genetically predicted protein biomarkers and drug targets for prostate cancer via Mendelian randomization

VIEW, EarlyView.
Prostate cancer, a leading cause of cancer in men globally, urgently requires improved diagnostic and treatment strategies. This study analyzed large genetic datasets and identified five key proteins (THBD, DST, IFI27L2, OSBPL10, PPP1R14A) that either increase or decrease cancer risk, while also exploring their roles in immune response and potential ...
Maoping Cai, Tianming Peng, Zhiyue Xie, Chuqian Zhen, Chen Yao, Nan Peng, Qianyi Li, Yuzhong Yu, Jiming Bao, Xian‐Lu Song, Mingkun Chen, Shan‐Chao Zhao   +11 more
wiley   +1 more source

Integrated high‐resolution copy number and histomolecular analysis of diffuse hemispheric glioma, H3 G34‐mutant reveals universal TP53 abnormalities

Brain Pathology, EarlyView.
This integrated high‐resolution copy number and histomolecular analysis of diffuse hemispheric glioma, H3 G34‐mutant expands the spectrum of associated genetic changes and underscores the presence of universal TP53 abnormalities at copy number, sequence, and protein expression level, with frequent yet largely unrecognized TP53 copy‐neutral loss of ...
Jorge A. Trejo‐Lopez, Cinthya Zepeda Mendoza, Thomas M. Kollmeyer, Kristen L. Drucker, Vanessa M. Pazdernik, Paul A. Decker, Corinne E. Praska, Jayson Hardcastle, Stephanie Smoley, Matthew Isaacson, Mallika Gandham, Surendra Dasari, Aditya Raghunathan, Caterina Giannini, Gang Zheng, Aaron Wagner, M. Beatriz Lopes, Kar‐Ming A. Fung, JoElle G. Peterson, Andreana L. Rivera, Christopher Rossi, Meggen A. Walsh, Zied Abdullaev, Kenneth Aldape, Martha Quezado, Drew Pratt, Patrick Joseph Cimino, Robert B. Jenkins, Cristiane M. Ida   +28 more
wiley   +1 more source

Acetaldehyde and defective mismatch repair increase colonic tumours in a Lynch syndrome model with Aldh1b1 inactivation

Disease Models & Mechanisms, 2023
Guia Cerretelli, Ying Zhou, Mike F. Müller, David J. Adams, Mark J. Arends   +4 more
doaj   +1 more source

Clinical exome performance for reporting secondary genetic findings. [PDF]

, 2014
BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P, Fortina, Paolo, Kricka, Lj, Londin, E, Park, J. Y., Park, Jy, Sponziello, Marialuisa   +6 more
core   +1 more source

Mapping the Prevalence of Lynch Syndrome in the Ceará—Northeast of Brazil

Clinical Genetics, EarlyView.
Distribution of pathogenic variants associated with Lynch syndrome across Brazil, with a particular emphasis on the state of Ceará. The illustration highlights the most frequently reported MMR genetic variants in Brazil and provides a magnified view of Ceará, where three novel variants were identified in the APC, SMAD4, and MSH6 genes within specific ...
Maria Claudia dos Santos Luciano, Paulo Goberlanio de Barros Silva, Rosane Oliveira de Sant'Ana, Clarissa Gondim Picanço de Albuquerque, Francisca Fernanda Barbosa Oliveira, Flavio da Silveira Bitencourt, Isabelle Joyce de Lima Silva Fernandes, José Fernando Bastos Moura, Maria Júlia Barbosa Bezerra   +8 more
wiley   +1 more source

Human papilloma virus infection and mismatch repair protein expression in sebaceous neoplasms of the genital area

Histopathology, EarlyView.
This study establishes the role of high‐risk HPV infection in cutaneous sebaceous carcinoma of the genital area. An intraepithelial component in a subset of cases poses a challenge to distinguish the entity from squamous cell carcinoma in situ. Rarely, sebaceous neoplasia of the genital area is associated with Muir–Torre syndrome. Aims This study aimed
Katharina Wiedemeyer, Zainab Al‐Shamma, Martin Köbel, Ingrid Ferreira, Paul W. Harms, Thomas Brenn   +5 more
wiley   +1 more source