نتائج البحث

1

FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders

المؤلفون: Gagan B. Panigrahi, Jean-Yves Masson, Amit Laxmikant Deshmukh, Antonio Porro, Mohiuddin Mohiuddin, Stella Lanni, Christopher E. Pearson, Alessandro A. Sartori, Marie-Christine Caron

المساهمون: University of Zurich, Jones, Lesley, Pearson, Christopher E, Wheeler, Vanessa

المصدر: Journal of Huntington's Disease

مصطلحات موضوعية: 0301 basic medicine, DNA Repair, DNA repair, 2804 Cellular and Molecular Neuroscience, Clinical Neurology, 610 Medicine & health, Review, Biology, Genomic Instability, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Huntington's disease, FAN1, medicine, Animals, Humans, Spinocerebellar Ataxias, Copy-number variation, nuclease, Gene, repeat instability, Genetics, modifier, Endodeoxyribonucleases, Genes, Modifier, 10061 Institute of Molecular Cancer Research, medicine.disease, Multifunctional Enzymes, FMR1, karyomegalic interstitial nephritis, Exodeoxyribonucleases, Huntington Disease, 2728 Neurology (clinical), 030104 developmental biology, Spinocerebellar ataxia, 570 Life sciences, biology, Neurology (clinical), Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Huntington’s disease

وصف الملف: document13.27.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7e92a8368c843dfd093416c7ac00b39Test
https://doi.org/10.3233/jhd-200448Test

2

Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review

المؤلفون: Gabriel Capellá, Laura Valle, Matilde Navarro, Mariona Terradas, Gemma Aiza, Sami Belhadj, Pau M. Munoz-Torres

المصدر: Human Mutation. 41:1563-1576

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::197a3bdc5838a6fac0b33aa6572329f8Test
https://doi.org/10.1002/humu.24057Test

3

New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene

المؤلفون: Lamia BenJemaa, Syrine Hizem, Salwa Abid, Hassen Bacha, Imen Rejeb, Chiraz Zaied, Houweyda Jilani, Taieb Benabdallah, Raja Aoudia, Yasmina Elaribi, Hafedh Hedri, Hanene Gaied, Rim Goucha, Mouna Jerbi

المصدر: BMC Medical Genomics
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d3ff19070a12b9e0b7baa048dd480b0Test
https://pubmed.ncbi.nlm.nih.gov/34126972Test

4

FAN1 nuclease activity affects CAG expansion and age at onset of Huntington’s disease

مصطلحات موضوعية: Genetics, Nuclease, Huntington's disease, FAN1, biology.protein, medicine, Biology, Trinucleotide repeat expansion, medicine.disease, Phenotype, Gene, Exome sequencing, Genetic association

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::186d09a6104703c0de6b1a80e06b7c7cTest
https://doi.org/10.1101/2021.04.13.439716Test

5

Genetic and functional analyses point to FAN1 as the source of multiple Huntington Disease modifier effects

المؤلفون: Marcy E. MacDonald, Jeffrey D. Long, Jongmin Lee, Michael J. Chao, Peter Holmans, Tammy Gillis, Jayalakshmi S. Mysore, Jacob M. Loupe, Michael Orth, Lesley Jones, Darren G. Monckton, Kyung Hee Kim, Jun-Wan Shin, Eun Pyo Hong, Seung Kwak, James F. Gusella, Ramee Lee

المصدر: Am J Hum Genet

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6d80a57a1a1ec986be0b057852168a0Test
https://orca.cardiff.ac.uk/id/eprint/131840/1Test/FAN1.AJHG.accepted.version.pdf

6

Generation of a human induced pluripotent stem cell line (CMCi001-A) from a patient with karyomegalic interstitial nephritis with homozygous frameshift deletion mutation c.1985_1994del10 of the FANCD2/FANCI-Associated Nuclease 1 gene

المؤلفون: Kyoung Woon Kim, Hyojin Chae, Sun Woo Lim, Do Hyun Na, Byung Ha Chung, Myungshin Kim, Eun Jeong Ko, Chul Woo Yang, Bo-Mi Kim, Yoo-Jin Shin

المصدر: Stem Cell Research, Vol 46, Iss, Pp 101876-(2020)

مصطلحات موضوعية: Adult, 0301 basic medicine, Induced Pluripotent Stem Cells, medicine.disease_cause, Peripheral blood mononuclear cell, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Induced pluripotent stem cell, Gene, lcsh:QH301-705.5, Sequence Deletion, Nuclease, Mutation, biology, FAN1 gene, Fanconi Anemia Complementation Group D2 Protein, Cell Biology, General Medicine, Karyomegalic interstitial nephritis, biology.organism_classification, Molecular biology, Embryonic stem cell, Fanconi Anemia Complementation Group Proteins, Sendai virus, 030104 developmental biology, lcsh:Biology (General), Leukocytes, Mononuclear, biology.protein, behavior and behavior mechanisms, Nephritis, Interstitial, Female, 030217 neurology & neurosurgery, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccf78895c66f04e881820f0353613a56Test
http://www.sciencedirect.com/science/article/pii/S187350612030177XTest

7

C04 Exome sequencing identifies DNA repair enzyme variants associated with altered age at onset of huntington’s disease

المؤلفون: Elliott Rees, Branduff McAllister, Peter Holmans, Tom Massey, Lesley Jones

المصدر: Genetic modifiers.

مصطلحات موضوعية: Genetics, MSH3, Huntington's disease, DNA repair, FAN1, medicine, Late onset, Biology, medicine.disease, Trinucleotide repeat expansion, Gene, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bd2be3dc25861e10f9ddfd251344199bTest
https://doi.org/10.1136/jnnp-2018-ehdn.75Test

8

The Simple Chordate Ciona intestinalis Has a Reduced Complement of Genes Associated with Fanconi Anemia

المؤلفون: Niall G. Howlett, Paul A. Azzinaro, Edward C. Stanley, David A. Vierra, Steven Q. Irvine

المصدر: Evolutionary Bioinformatics
Evolutionary Bioinformatics, Vol 2016, Iss 12, Pp 133-148 (2016)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a40da5d153104703276b66954799bc0cTest
http://europepmc.org/articles/PMC4898443Test

9

Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer

المصدر: Cancer letters, vol 370, iss 2

مصطلحات موضوعية: Exome sequencing, 0301 basic medicine, Cancer Research, DNA Repair, Cell Cycle Proteins, Gene mutation, medicine.disease_cause, Germline, Risk Factors, 2.1 Biological and endogenous factors, Exome, Aetiology, Cancer, Genetics, Mutation, DNA repair genes, Gene Expression Regulation, Neoplastic, NIMA-Related Kinase 1, Oncology, Familial pancreatic cancer, Sequence Analysis, Biotechnology, DNA repair, Oncology and Carcinogenesis, Protein Serine-Threonine Kinases, Biology, Article, Pancreatic Cancer, 03 medical and health sciences, Rare Diseases, Clinical Research, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Oncology & Carcinogenesis, Gene, Neoplastic, FAN1, Human Genome, DNA, Sequence Analysis, DNA, Pancreatic Neoplasms, Orphan Drug, 030104 developmental biology, Gene Expression Regulation, Cancer research, Digestive Diseases, Pancreatic adenocarcinoma

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f89e0fe385aafa8f857f535544ace228Test
https://doi.org/10.1016/j.canlet.2015.10.030Test

10

Polymerase Proofreading Associated Polyposis, and Other New Syndromes of Hereditary Colorectal Cancer

المؤلفون: James M. Church

المصدر: Intestinal Polyposis Syndromes ISBN: 9783319281018

مصطلحات موضوعية: Genetics, Germline mutation, Colorectal cancer, business.industry, FAN1, Cancer screening, medicine, Disease, medicine.disease, business, Gene, Phenotype, Familial adenomatous polyposis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::73b94479c93ae81edd348b79527de410Test
https://doi.org/10.1007/978-3-319-28103-2_5Test

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