Výsledky vyhledávání - "Chromosome instability syndrome"

Akademický článek

Hypersensitivity to radiation-induced non-apoptotic and apoptotic death in cell lines from patients with the ICF chromosome instability syndrome

Autor: Narayan, Ajita, Tuck-Muller, Cathy, Weissbecker, Karen, Smeets, Dominique, Ehrlich, Melanie ^*

Publikováno v: In Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 2000 456(1):1-15

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Akademický článek

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A disease with immune deficiency, skin abscesses, pancytopenia, abnormal bone marrow karyotype, and increased sister chromatid exchanges: An autosomal recessive chromosome instability syndrome?

Autor: Ichiro Matsuda, Hiroyuki Nunoi, Shigenori Higuchi, Izumi Akaboshi, Akihiko Kitano, Masao S. Sasaki, Hiroyuki Tsuchiya, Yasuhide Yanabe

Publikováno v: Japanese journal of human genetics. 35:263-269

A 19-year-old girl is described with microcephaly, short stature, mental retardation, pigmentation of the skin, and recurrent skin abscesses over the whole body. Her elder brother and sister both showed growth and developmental retardation, microceph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d58051deef14568ffea9b854a06497d
https://doi.org/10.1007/bf01876856

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Superoxide dismutase activity and chromosome damage in cultured chromosome instability syndrome cells

Autor: Yasuhide Yanabe, Michihiro C. Yoshida, Syuiti Abe, Ichiro Matsuda, Kwang-Ho Lee

Publikováno v: Mutation Research Letters. 244:251-256

The basal levels of superoxide dismutase (SOD) activity and chromosome aberration (CA) and sister-chromatid exchange (SCE) frequencies were examined in cultured fibroblasts or Epstein-Barr virus (EBV)-transformed lymphoblastoid cell lines (LCLs). The

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3f273f9a186a09736b0319e4879beee
https://doi.org/10.1016/0165-7992(90)90137-9

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Hypersensitivity to radiation-induced non-apoptotic and apoptotic death in cell lines from patients with the ICF chromosome instability syndrome

Autor: Ajita Narayan, Cathy M. Tuck-Muller, Karen Weissbecker, Dominique Smeets, Melanie Ehrlich

Publikováno v: Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis, 456, 1-15
Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis, 456, pp. 1-15

Immunodeficiency, centromeric region instability, and facial anomalies (ICF), a rare recessive chromosome instability syndrome, involves the loss of DNA methyltransferase 3B activity and the consequent hypomethylation of a small portion of the genome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ddb90ddb7d08c78bb5ec675f278414f
https://pubmed.ncbi.nlm.nih.gov/11087891

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Japanese family with an autosomal dominant chromosome instability syndrome: a new neurodegenerative disease?

Autor: Keiko Wakui, Kunihiro Yoshida, M. Ishikawa, Shinya Matsuura, Takahiko Tokuda, Hiroaki Shigeta, Shozo Ishikawa, Shu-ichi Ikeda, Shinji Ohara, Eiko Hidaka, Yoshimitsu Fukushima, Kenji Komatsu, Yoshiki Sekijima

Publikováno v: American journal of medical genetics. 94(4)

We report on a Japanese family having an autosomal dominant neurodegenerative disease with chromosomal instability and radiosensitivity. Clinical manifestations of affected members included short stature, osteoporosis, severe dental caries, and vario

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4425650513759afd3d5c8c8343d47887
https://pubmed.ncbi.nlm.nih.gov/11038437

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Akademický článek

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Periodical

Hypersensitivity to radiation-induced non-apoptotic and apoptotic death in cell lines from patients with the ICF chromosome instability syndrome

Autor: Narayan, A., Tuck-Muller, C., Weissbecker, K., Smeets, D., Ehrlich, M.

Publikováno v: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis; 2000, Vol. 456 Issue: 1 p1-15, 15p

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Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients

Autor: Antonio M. Lerario, Alexsandra C. Malaquias, Mariana F A Funari, AM Leal, Bruna L Freire, Thais Kataoka Homma, Elvira Deolinda Rodrigues Pereira Velloso, Alexander A. L. Jorge

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

Background Fanconi Anemia (FA) is a rare and heterogeneous genetic syndrome. It is associated with short stature, bone marrow failure, high predisposition to cancer, microcephaly and congenital malformation. Many genes have been associated with FA. P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8be956f2aeab0bf84f2b80e150bd2f3
https://doi.org/10.1016/j.ejmg.2017.11.003

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