نتائج البحث

1

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

2

Novel homozygous FAN1 mutation in a familial case of karyomegalic interstitial nephritis

المؤلفون: Muhammad M. Yaqoob, Kumarasamy Thangaraj, Rajeevalochana Parthasarthy, Sneha Haridas Anupama, Priyanka Koshy, Milly Mathew, Digumarthi V. S. Sudhakar, Georgi Abraham

المصدر: Indian Journal of Nephrology, Vol 30, Iss 4, Pp 283-285 (2020)
Indian Journal of Nephrology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdfe066ab998729fdb180dab39cf60cbTest
https://doi.org/10.4103/ijn.ijn_278_19Test

3

A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis

المؤلفون: Sunder Sims-Lucas, Elina Mukherjee, Jang Cho, Friedhelm Hildebrandt, Merlin Airik, Rannar Airik, Markus Schueler, Jonathan D. Porath

المصدر: Journal of the American Society of Nephrology. 27:3552-3559

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7af1d4795b4ecb22ac7d3d8665337f34Test
https://doi.org/10.1681/asn.2015101108Test

4

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

5

FAN1 protects against repeat expansions in a Fragile X mouse model

المؤلفون: Karen Usdin, Xiao-Nan Zhao

المصدر: DNA repair. 69

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6af8ed01e42e00a96df58f61f81f575Test
https://pubmed.ncbi.nlm.nih.gov/29990673Test

6

The nuclease FAN1 is involved in DNA crosslink repair in Arabidopsis thaliana independently of the nuclease MUS81

المؤلفون: Natalie J. Herrmann, Holger Puchta, Alexander Knoll

المصدر: Nucleic Acids Research

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bce62a31d4843f38c131909dfc7e490cTest
https://doi.org/10.1093/nar/gkv208Test

7

Mutations of the SLX4 gene in Fanconi anemia

المؤلفون: Helmut Hanenberg, Rohini Desetty, Yonghwan Kim, Arleen D. Auerbach, Francis P. Lach, Agata Smogorzewska

المصدر: Nature genetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14a46b2918b2e343ce49ea8eae441c43Test
https://doi.org/10.1038/ng.750Test

8

Structural insights into 5′ flap DNA unwinding and incision by the human FAN1 dimer

المؤلفون: Yong Xiong, Simonne Longerich, Patrick Sung, Qi Zhao, Xiaoyu Xue

المصدر: Nature communications
Nature Communications

مصطلحات موضوعية: Models, Molecular, DNA Repair, DNA repair, DNA damage, Dimer, Gene Expression, General Physics and Astronomy, macromolecular substances, Crystallography, X-Ray, medicine.disease_cause, Protein Structure, Secondary, Article, General Biochemistry, Genetics and Molecular Biology, law.invention, chemistry.chemical_compound, law, hemic and lymphatic diseases, Escherichia coli, medicine, Humans, Nuclease, Mutation, Endodeoxyribonucleases, Multidisciplinary, biology, FAN1, technology, industry, and agriculture, DNA, General Chemistry, Multifunctional Enzymes, Recombinant Proteins, Protein Structure, Tertiary, Exodeoxyribonucleases, chemistry, Biochemistry, biology.protein, Recombinant DNA, Nucleic Acid Conformation, Protein Multimerization, DNA Damage, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88a5b60c9e0bf61f4e13ca255b5e6a2aTest
https://doi.org/10.1038/ncomms6726Test

9

Genome stability, progressive kidney failure and aging

المؤلفون: Hannes Lans, Jan H.J. Hoeijmakers

المساهمون: Molecular Genetics

المصدر: Nature Genetics
Nature Genetics, 44(8), 836-838. Nature Publishing Group

مصطلحات موضوعية: Genome instability, Genetics, Premature aging, 0303 health sciences, Kidney, Mutation, DNA damage, FAN1, Biology, medicine.disease, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, 030220 oncology & carcinogenesis, medicine, Gene, Nephritis, 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c89bbaaa7a31759ecc0b379dd81f80a2Test
https://pure.eur.nl/en/publications/37d77f6c-4e11-404c-a27e-15105156c181Test

10

EGFR-activating mutations correlate with a Fanconi anemia-like cellular phenotype that includes PARP inhibitor sensitivity

المؤلفون: Patricia Greninger, Heike N. Pfäffle, Cyril H. Benes, Natalie Ferraiolo, Lee Zou, Lecia V. Sequist, Kerstin Borgmann, Liliana Gheorghiu, Henning Willers, Jeffrey Settleman, Meng Wang

المصدر: Cancer research. 73(20)

مصطلحات موضوعية: Cancer Research, Lung Neoplasms, DNA repair, Poly(ADP-ribose) Polymerase Inhibitors, medicine.disease_cause, Transfection, Article, Olaparib, chemistry.chemical_compound, Mice, Cell Line, Tumor, FANCD2, medicine, Animals, Humans, Epidermal growth factor receptor, Enzyme Inhibitors, Cisplatin, Recombination, Genetic, Mutation, Endodeoxyribonucleases, biology, FAN1, Fanconi Anemia Complementation Group D2 Protein, Molecular biology, Multifunctional Enzymes, ErbB Receptors, Exodeoxyribonucleases, Fanconi Anemia, Oncology, chemistry, PARP inhibitor, Cancer research, biology.protein, NIH 3T3 Cells, Rad51 Recombinase, Poly(ADP-ribose) Polymerases, medicine.drug, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be5c8cc89925ffb9fc90970b74a0a376Test
https://pubmed.ncbi.nlm.nih.gov/23966292Test

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