Zobrazeno 1 - 10
of 134
pro vyhledávání: '"Neelam Giri"'
Autor:
Pamela Stratton, Neelam Giri, Sonia Bhala, Martha M Sklavos, Blanche P Alter, Sharon A Savage, Ligia A Pinto
Publikováno v:
Endocrine Connections, Vol 13, Iss 9, Pp 1-7 (2024)
Fanconi anemia (FA), dyskeratosis congenita-related telomere biology disorders (DC/TBD), and Diamond–Blackfan anemia (DBA) are inherited bone marrow failure syndromes (IBMFS) with high risks of bone marrow failure, leukemia, and solid tumors. Indiv
Externí odkaz:
https://doaj.org/article/0d58cde5b2494462b7dd783e9bbf4a51
Autor:
Svenja Kastellan, Reinhard Kalb, Bia Sajjad, Lisa J. McReynolds, Neelam Giri, David Samuel, Till Milde, Miriam Elbracht, Susanne Holzhauer, Marena R. Niewisch, Christian P. Kratz
Publikováno v:
Journal of Hematology & Oncology, Vol 17, Iss 1, Pp 1-5 (2024)
Abstract Constitutional heterozygous pathogenic variants in genes coding for some components of the Fanconi anemia-BRCA signaling pathway, which repairs DNA interstrand crosslinks, represent risk factors for common cancers, including breast, ovarian,
Externí odkaz:
https://doaj.org/article/f65bbdcf430341eb9cdd14a176000ac5
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Introduction: Diamond Blackfan anemia (DBA) is an autosomal dominant ribosomopathy caused predominantly by pathogenic germline variants in ribosomal protein genes. It is characterized by failure of red blood cell production, and common features inclu
Externí odkaz:
https://doaj.org/article/33382d6041ff4b748615775a8dafe5eb
Publikováno v:
Haematologica, Vol 108, Iss 1 (2022)
Fanconi anemia (FA) is caused by pathogenic variants in the FA/BRCA DNA repair pathway genes, and is characterized by congenital abnormalities, bone marrow failure (BMF) and increased cancer risk. We conducted a genotype-phenotype and outcomes study
Externí odkaz:
https://doaj.org/article/a63c63e03a0d402696703a0e276f1d9e
Autor:
Mone't B. Thompson, Daniel Muldoon, Kelvin C. de Andrade, Neelam Giri, Blanche P. Alter, Sharon A. Savage, Robert D. Shamburek, Payal P. Khincha
Publikováno v:
EBioMedicine, Vol 75, Iss , Pp 103760- (2022)
Summary: Background: Dyskeratosis congenita (DC) is a telomere biology disorder associated with high rates of bone marrow failure (BMF) and other medical complications. Oral androgens are successfully used to treat BMF in DC but often have significan
Externí odkaz:
https://doaj.org/article/f464a2a5b5ff4779ba348bedeb5d5091
Autor:
D. Matthew Gianferante, Marcin W. Wlodarski, Evangelia Atsidaftos, Lydie Da Costa, Polyxeni Delaporta, Jason E. Farrar, Frederick D. Goldman, Maryam Hussain, Antonis Kattamis, Thierry Leblanc, Jeffrey M. Lipton, Charlotte M. Niemeyer, Dagmar Pospisilova, Paola Quarello, Ugo Ramenghi, Vijay G. Sankaran, Adrianna Vlachos, Jana Volejnikova, Blanche P. Alter, Sharon A. Savage, Neelam Giri
Publikováno v:
Haematologica, Vol 106, Iss 5 (2020)
Diamond Blackfan anemia (DBA) is predominantly an autosomal dominant inherited red cell aplasia primarily caused by pathogenic germline variants in ribosomal protein genes. DBA due to pathogenic RPL35A variants has been associated with large 3q29 del
Externí odkaz:
https://doaj.org/article/6dcaa279444c45d49f67d28d56e40b5d
Autor:
Payal P. Khincha, Alison A. Bertuch, Shahinaz M. Gadalla, Neelam Giri, Blanche P. Alter, Sharon A. Savage
Publikováno v:
Blood Advances, Vol 2, Iss 11, Pp 1243-1249 (2018)
Abstract: Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome and the prototypic telomere biology disorder (TBD). Leukocyte telomere length (TL) less than the first percentile for age, measured by flow cytometry with in situ hybr
Externí odkaz:
https://doaj.org/article/0d9928eb7b714274bd3567f5c37cc2f2
Autor:
Neelam Giri, Sandhiya Ravichandran, Youjin Wang, Shahinaz M. Gadalla, Blanche P. Alter, Joseph Fontana, Sharon A. Savage
Publikováno v:
ERJ Open Research, Vol 5, Iss 4 (2019)
Pulmonary fibrosis and pulmonary arteriovenous malformations are known manifestations of dyskeratosis congenita (DC), a telomere biology disorder (TBD) and inherited bone marrow failure syndrome caused by germline mutations in telomere maintenance ge
Externí odkaz:
https://doaj.org/article/e9b5a2eb30bd4b7db1612c4659e4efe7
Publikováno v:
Haematologica, Vol 103, Iss 1 (2018)
The National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort enrolls patients with the four major syndromes: Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome, and follows them with a comm
Externí odkaz:
https://doaj.org/article/a9e4bf8b2a53437e9881747dfe3963ed
Publikováno v:
Haematologica, Vol 100, Iss 1 (2015)
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 telomer
Externí odkaz:
https://doaj.org/article/844ae2e7f3f14a9eac7b6752c8bc527e