Results 21 to 30 of about 90,557 (301)

Establishment of pluripotent cell lines from vertebrate species - Present status and future prospects [PDF]

, 1999
Pluripotent embryonic stem (ES) cells are undifferentiated cell lines derived from early embryos and are capable of unlimited undifferentiated proliferation in vitro.
Vassilieva, Svetlana G., Wobus, Anna M., Wolf, Eckhard, Prelle, Katja, Vassiliev, Ivan M.   +4 more
core   +1 more source

Germ line mutations associated with leukemias [PDF]

Hematology, 2016
AbstractSeveral genetic syndromes have long been associated with a predisposition to the development of leukemia, including bone marrow failure syndromes, Down syndrome, and Li Fraumeni syndrome. Recent work has better defined the leukemia risk and outcomes in these syndromes.
openaire   +2 more sources

Muller's ratchet and mutational meltdowns [PDF]

, 1993
We extend our earlier work on the role of deleterious mutations in the extinction of obligately asexual populations. First, we develop analytical models for mutation accumulation that obviate the need for time-consuming computer simulations in certain ...
Lynch, M., Bürger, R., Lynch, Michael, Gabriel, W., Bürger, Reinhard, W. Gabriel, M. Lynch, R. Bürger, Gabriel, Wilfried   +8 more
core   +1 more source

Generation of Marfan patient specific iPSCs (ICSSUi001-A) carrying a novel heterozygous mutation in FBN1 gene

Stem Cell Research, 2022
Marfan syndrome (MFS) is an autosomal genetic disorder caused by mutation in FBN1 gene, encoding the extracellular matrix protein fibrillin-1. Here, a MFS patient specific iPSC carrying a novel heterozygous mutation (c.7897 T > G) in FBN1 gene was ...
You Yu, Han Shen, Jingze Zhu, Xiangyu Cao, Qian Li, Lianbo Shao, Zhenya Shen   +6 more
doaj   +1 more source

Phenocopies in melanoma-prone families with germ-line CDKN2A mutations [PDF]

Genetics in Medicine, 2018
Carriers of CDKN2A mutations have high risks of melanoma and certain other cancers. In this study we examined the occurrence of tumors among CDKN2A wild type (wt) members of melanoma-prone families with CDKN2A mutations.Swedish and US melanoma-prone families with CDKN2A mutations were included.
Hildur, Helgadottir, Håkan, Olsson, Margaret A, Tucker, Xiaohong R, Yang, Veronica, Höiom, Alisa M, Goldstein   +5 more
openaire   +2 more sources

Generation of a human induced pluripotent stem cell line (UEFi003-A) carrying heterozygous A673T variant in amyloid precursor protein associated with a reduced risk of Alzheimer’s disease

Stem Cell Research, 2020
A673T mutation in the amyloid precursor protein (APP) is a rare variant associated with a reduced risk of late-onset Alzheimer‘s disease (AD) and age-related cognitive decline.
Taisia Rolova, Ying-Chieh Wu, Marja Koskuvi, Jenni Voutilainen, Tuuli-Maria Sonninen, Johanna Kuusisto, Markku Laakso, Riikka H. Hämäläinen, Jari Koistinaho, Šárka Lehtonen   +9 more
doaj   +1 more source

Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA [PDF]

, 2014
The manifestation of mitochondrial DNA (mtDNA) diseases depends on the frequency of heteroplasmy (the presence of several alleles in an individual), yet its transmission across generations cannot be readily predicted owing to a lack of data on the size ...
Chiaromonte, Francesca, T. S. Korneliussen, D. Blankenberg, Blankenberg, Daniel, Korneliussen, Thorfinn Sand, I. M. Paul, Paul, IM, Holland, Mitchell M, Su, Marcia Shu-Wei, B. Rebolledo-Jaramillo, Su, MS-W, B. Dickins, A. Nekrutenko, McElhoe, Jennifer A., R. Nielsen, N. Stoler, Nielsen, Rasmus, Nekrutenko, A, Makova, Kateryna D., Stoler, Nicholas, McElhoe, Jennifer A, Korneliussen, Thorfinn S., Chiaromonte, F, Holland, MM, M. S.-W. Su, Nekrutenko, Anton, Nielsen, R, Makova, KD, J. A. McElhoe, Rebolledo-Jaramillo, Boris, Rebolledo-Jaramillo, B, Korneliussen, Thorfinn S, Makova, Kateryna D, M. M. Holland, Holland, Mitchell M., Stoler, N, Blankenberg, D, F. Chiaromonte, Paul, Ian M., Paul, Ian M, K. D. Makova, Korneliussen, TS, McElhoe, JA, Dickins, Benjamin, Dickins, B   +44 more
core   +1 more source

Necessidade de novos critérios clínicos para a identificação de famílias com síndroma de Lynch em base genética.

Acta Médica Portuguesa, 2008
Surveillance programs in families with Hereditary Non-Polyposis Colorectal Cancer (HNPCC), which is an autossomal dominant disease, decrease colorectal carcinoma mortality.
Rita Sousa, Pedro Lage, Sara Ferreira, Isabel Claro, Inês Francisco, Bruno Filipe, Cristina Albuquerque, Alexandra Suspiro, Paula Rodrigues, Carlos Nobre-Leitão   +9 more
doaj   +1 more source

Human pluripotent stem cell line (HDZi001-A) derived from a patient carrying the ARVC-5 associated mutation TMEM43-p.S358L

Stem Cell Research, 2020
Arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC-5) is a dominantly inherited cardiomyopathy caused by the mutation TMEM43-p.S358L. An induced pluripotent stem cell (iPSC) line (HDZi001-A) from an adult male mutation carrier was generated ...
Sandra Ratnavadivel, Marcelo Szymanski de Toledo, Torsten Bloch Rasmussen, Tomo Šarić, Jan Gummert, Martin Zenke, Hendrik Milting   +6 more
doaj   +1 more source

Generation and characterization of iPS cell line (CTGUi001-A) from skin fibroblasts of a patient with Fabry disease

Stem Cell Research, 2023
We have generated an iPSCs line (CTGUi001-A) from dermal fibroblasts of a 16-year-old male Fabry disease patient with a novel GLA gene mutation (c.156C > A) using Sendai virus encoding the four Yamanaka factors OCT4, SOX2, KLF4, and c-MYC. The CTGUi001-A
Yu Qin, Jing-qiong Zhan, Cui-jiao Ma, Chun-yu Cao, Yuan Zhang, Yuan-ting Min, Ya-feng Lv   +6 more
doaj   +1 more source