Bone marrow skeletal stem/progenitor cell defects in patients with dyskeratosis congenita and telomere biology disorders
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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. Alter, Pamela G. Robey
منابع مشابه
Bone 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...
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Dyskeratosis congenita (DC) is a bone marrow failure syndrome associated with telomere dysfunction. The progression and molecular determinants of hematopoietic failure in DC remain poorly understood. Here, we use the directed differentiation of human embryonic stem cells harboring clinically relevant mutations in telomerase to understand the consequences of DC-associated mutations on the primit...
متن کاملShort Telomeres, even in the Presence of Telomerase, Limit Tissue Renewal Capacity
Autosomal-dominant dyskeratosis congenita is associated with heterozygous mutations in telomerase. To examine the dosage effect of telomerase, we generated a line of mTR+/- mice on the CAST/EiJ background, which has short telomeres. Interbreeding of heterozygotes resulted in progressive telomere shortening, indicating that limiting telomerase compromises telomere maintenance. In later-generatio...
متن کاملResponse to androgen therapy in patients with dyskeratosis congenita.
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome and telomere biology disorder characterized by dysplastic nails, reticular skin pigmentation and oral leucoplakia. Androgens are a standard therapeutic option for bone marrow failure in those patients with DC who are unable to undergo haematopoietic stem cell transplantation, but there are no systematic data on its use in ...
متن کاملHEMATOPOIESIS AND STEM CELLS A zebrafish model of dyskeratosis congenita reveals hematopoietic stem cell formation failure resulting from ribosomal protein-mediated p53 stabilization
Dyskeratosis congenita (DC) is a bone marrow failure disorder characterized by shortened telomeres, defective stem cell maintenance, and highly heterogeneous phenotypes affecting predominantly tissues that require high rates of turnover. Here we present a mutant zebrafish line with decreased expression of nop10, one of the known H/ACA RNP complex genes with mutations linked to DC. We demonstrat...
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تاریخ انتشار 2014