Dyskeratosis congenita, bone marrow failure, and gastric adenocarcinoma: an insight into telomere biology.
نویسندگان
چکیده
منابع مشابه
Telomere length is associated with disease severity and declines with age in dyskeratosis congenita.
BACKGROUND Dyskeratosis congenita is a cancer-prone bone marrow failure syndrome caused by aberrations in telomere biology. DESIGN AND METHODS We studied 65 patients with dyskeratosis congenita and 127 unaffected relatives. Telomere length was measured by automated multicolor flow fluorescence in situ hybridization in peripheral blood leukocyte subsets. We age-adjusted telomere length using Z...
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Telomeres are long DNA repeats and a protein complex at chromosome ends that are essential for genome integrity. Telomeres are very short in patients with dyskeratosis congenita due to germline mutations in telomere biology genes. We compared telomere length in patients with Fanconi anemia, Diamond-Blackfan anemia and Shwachman-Diamond syndrome with telomere length in dyskeratosis congenita. Te...
متن کاملBone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders.
Dyskeratosis congenita (DC) is an inherited multisystem disorder, characterized by oral leukoplakia, nail dystrophy, and abnormal skin pigmentation, as well as high rates of bone marrow (BM) failure, solid tumors, and other medical problems such as osteopenia. DC and telomere biology disorders (collectively referred to as TBD here) are caused by germline mutations in telomere biology genes lead...
متن کاملBone marrow skeletal stem/progenitor cell defects in patients with dyskeratosis congenita and telomere biology disorders
1 Supplementary Materials Bone marrow skeletal stem/progenitor cell defects in patients with dyskeratosis congenita and telomere biology disorders Arun Balakumaran, Prasun J. Mishra, Edyta Pawelczyk, Sayuri Yoshizawa, Brian Sworder, Natasha Cherman, Sergei A. Kuznetsov, Paolo Bianco, Neelam Giri, Sharon A. Savage, Glenn Merlino, Bogdan Dumitriu, Cynthia E. Dunbar, Neal S. Young, Blanche P. Alte...
متن کاملPoly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.
Dyskeratosis congenita (DC) and related syndromes are inherited, life-threatening bone marrow (BM) failure disorders, and approximately 40% of cases are currently uncharacterized at the genetic level. Here, using whole exome sequencing (WES), we have identified biallelic mutations in the gene encoding poly(A)-specific ribonuclease (PARN) in 3 families with individuals exhibiting severe DC. PARN...
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عنوان ژورنال:
- The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology
دوره 28 4 شماره
صفحات -
تاریخ انتشار 2017