Varaico: Literature-Extracted Genetic Variants

Gene:MLH3
Variant:p.P844L
Back to variants list

MLH3

NM_001040108.2:p.P844L

Associated Papers

The role of DNA mismatch repair mutS/mutL homolog genes in spermatogenesis and male infertility: a systematic review and cohort study.

Podgrajsek R et al.

Reproductive Biology and Endocrinology : Rb&e, 2025

41257861 (PubMed )
Supplement: 12958_2025_1493_MOESM1_ESM.docx

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table2.xls › Sheet1

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

A Primary Telangiectatic Mandibular Osteosarcoma With Germ-Line Malignancy-Associated DNA Damage Repair Gene Polymorphisms: A Case Report.

Tahir M et al.

Case Reports in Oncological Medicine, 2024

Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.

Ozturk S

Cell Cycle (georgetown, Tex.), 2023

Liquid Biopsy of Cerebrospinal Fluid Enables Selective Profiling of Glioma Molecular Subtypes at First Clinical Presentation.

Orzan F et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36648487 (PubMed )
Supplement: ccr-22-2903_supplementary_data_2_suppds2.xlsx › Variants_identidied_in_Cohort1

Isolation and characterization of two newly established thymoma PDXs from two relapses of the same patient: a new tool to investigate thymic malignancies.

Mendogni P et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2022

36517829 (PubMed )
Supplement: 13046_2022_2554_MOESM1_ESM.xlsx › Table_S3

Analysis of copy number variation in men with non-obstructive azoospermia.

Wyrwoll MJ et al.

Andrology, 2022

36041235 (PubMed )
Supplement: NIHMS1833267-supplement-supinfo2.pdf

MutL homolog 1 germline mutation c.(453+1_454-1)_(545+1_546-1)del identified in lynch syndrome: A case report and review of literature.

Zhang XW et al.

World Journal of Clinical Cases, 2022

Genomic instability and the link to infertility: A focus on microsatellites and genomic instability syndromes.

Wieland J et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2022

Significance of rare variants in genes involved in the pathogenesis of Lynch syndrome.

Liccardo R et al.

International Journal of Molecular Medicine, 2022

A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure.

Volozonoka L et al.

Reproduction (cambridge, England), 2022

35451369 (PubMed )
Supplement: supplementary_table_1.xlsx › S1

Genetic variations as molecular diagnostic factors for idiopathic male infertility: current knowledge and future perspectives.

Karimian M et al.

Expert Review of Molecular Diagnostics, 2021

Genetic Factors of Non-Obstructive Azoospermia: Consequences on Patients' and Offspring Health.

Krausz C et al.

Journal of Clinical Medicine, 2021

Association of hMSH5 C85T polymorphism with radiation sensitivity of testicular cell lines GC-1, GC-2, TM3, and TM4.

Lin M et al.

Andrology, 2020

DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.

Caja F et al.

International Journal of Molecular Sciences, 2020

Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Yadav S et al.

Oncogene, 2020

32300177 (PubMed )
Supplement: 41388_2020_1280_MOESM3_ESM.xlsx › Main_Sheet_

Identification of a novel germline frameshift mutation p.D300fs of PMS1 in a patient with hepatocellular carcinoma: A case report and literature review.

Li X et al.

Medicine, 2020

32000458 (PubMed )
Supplement: medi-99-e19076-s001.xlsx › Supp_Table1._Germline_mutations

Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes.

Santos LS et al.

Genes, 2019

A case study of a long-term glioblastoma survivor with unmethylated MGMT and hypermutated genotype.

Jue TR et al.

Cold Spring Harbor Molecular Case Studies, 2019

appreci8: a pipeline for precise variant calling integrating 8 tools.

Sandmann S et al.

Bioinformatics (oxford, England), 2018

29945233 (PubMed )
Supplement: bty518_supplementary_data_s8.xls › Germline_true_positive

Genomic analysis of DNA repair genes and androgen signaling in prostate cancer.

Jividen K et al.

Bmc Cancer, 2018

30305041 (PubMed )
Supplement: 12885_2018_4848_MOESM1_ESM.xlsx › Sheet1

Germline mutation in the TP53 gene in uveal melanoma.

Hajkova N et al.

Scientific Reports, 2018

29769598 (PubMed )
Supplement: 41598_2018_26040_MOESM2_ESM.xlsx › Supplementary_Table_S1

Mismatch repair single nucleotide polymorphisms and thyroid cancer susceptibility.

Santos LS et al.

Oncology Letters, 2018

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Soukupova J et al.

Plos One, 2018

29649263 (PubMed )
Supplement: pone.0195761.s003.xlsx › S3

TEX15: A DNA repair gene associated with prostate cancer risk in Han Chinese.

Lin X et al.

The Prostate, 2017

Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.

Wang J et al.

Scientific Reports, 2017

28827732 (PubMed )
Supplement: 41598_2017_7737_MOESM1_ESM.pdf

Embryological Results of Couples Undergoing ICSI-ET Treatments with Males Carrying the Single Nucleotide Polymorphism rs175080 of the MLH3 Gene.

Anifandis G et al.

International Journal of Molecular Sciences, 2017

Coexistence of MLH3 germline variants in colon cancer patients belonging to families with Lynch syndrome-associated brain tumors.

Duraturo F et al.

Journal of Neuro-oncology, 2016

Mismatch Repair Polymorphisms as Markers of Breast Cancer Prevalence in the Breast Cancer Family Registry.

Kappil M et al.

Anticancer Research, 2016

Association of DNA repair gene polymorphisms with response to cisplatin-based concurrent chemoradiotherapy in patients with cervical carcinoma.

Liu JH et al.

Dna Repair, 2016

Impact of DNA mismatch repair system alterations on human fertility and related treatments.

Hu MH et al.

Journal of Zhejiang University. Science. B, 2016

Single-nucleotide polymorphism rs 175080 in the MLH3 gene and its relation to male infertility.

Markandona O et al.

Journal of Assisted Reproduction and Genetics, 2015

Spermatogenesis, DNA damage and DNA repair mechanisms in male infertility.

Gunes S et al.

Reproductive Biomedicine Online, 2015

Six polymorphisms in genes involved in DNA double-strand break repair and chromosome synapsis: association with male infertility.

Zhang X et al.

Systems Biology in Reproductive Medicine, 2015

Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.

Liu J et al.

Nature Communications, 2014

24807215 (PubMed )
Supplement: ncomms4830-s7.xls › S6-MMR_mutations

Mismatch repair gene MLH3 Pro844Leu and Thr942Ile polymorphisms and the susceptibility to cervical carcinoma and HPV infection: a case-control study in a Chinese population.

Ye F et al.

Plos One, 2014

MutS Homologues hMSH4 and hMSH5: Genetic Variations, Functions, and Implications in Human Diseases.

Clark N et al.

Current Genomics, 2013

Analysis of MLH3 C2531T polymorphism in Iranian women with unexplained infertility.

Pashaiefar H et al.

Iranian Journal of Reproductive Medicine, 2013

DNA mismatch repair network gene polymorphism as a susceptibility factor for pancreatic cancer.

Dong X et al.

Molecular Carcinogenesis, 2012

Expression analysis of MLH3, MLH1, and MSH4 in maturation arrest.

Ferrás C et al.

Reproductive Sciences (thousand Oaks, Calif.), 2012

Major histocompatibility complex class I chain-related gene polymorphisms: associated with susceptibility to Kawasaki disease and coronary artery aneurysms.

Hsieh YY et al.

Genetic Testing and Molecular Biomarkers, 2011

The search for SNPs, CNVs, and epigenetic variants associated with the complex disease of male infertility.

Carrell DT et al.

Systems Biology in Reproductive Medicine, 2011

DNA mismatch repair gene polymorphisms affect survival in pancreatic cancer.

Dong X et al.

The Oncologist, 2011

The role of endothelial nitric oxide synthase (eNOS) T-786C, G894T, and 4a/b gene polymorphisms in the risk of idiopathic male infertility.

Safarinejad MR et al.

Molecular Reproduction and Development, 2010

1–50 of 60 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."