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SAMD9L gene

Known as: STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 9-LIKE, KIAA2005, sterile alpha motif domain containing 9 like 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Ataxia pancytopenia syndrome due to SAMD9L mutation presenting as demyelinating neuropathy
Ataxia pancytopenia (ATXPC) syndrome due to gain‐of‐function pathogenic variants in the SAMD9L gene has been described in 38… 
2018
2018
Abstract 2063:SAMD9/SAMD9Lmutations in familial monosomy 7
The purpose of this study was to define the mutations causing familial monosomy 7 with myelodysplastic syndrome (MDS) and/or… 
Review
2018
Review
2018
[Association between SAMD9/SAMD9L and hematological malignancies].
In this article, knowledge about SAMD9/SAMD9L molecules, which has been a topic of interest in the field of hematological… 
2017
2017
Germline SAMD9 and SAMD9L Alterations in Adult Myelodysplastic Syndromes
While familial leukemia and bone marrow failure syndromes present typically in children, it is possible that less damaging… 
2017
2017
I am SAMD9L: 7q regulator I am.
The SAMD9L gene and its paralog SAMD9, sitting head to tail on chromosome 7q, are among the notable absences in −7/7q… 
2017
2017
Constitutional SAMD9L Mutations Cause Familial Myelodisplastic Syndrome with Monosomy 7 and Stable Revertant Mosaicism
Familial myelodysplastic syndromes (MDS) arise from haploinsufficiency of genes involved in hematopoiesis, show variable… 
2017
2017
SAMD9L-Related Ataxia-Pancytopenia Syndrome
2016
2016
ΔNp63α modulates histone methyl transferase SETDB1 to transcriptionally repress target genes in cancers
ΔNp63α is primarily expressed in the epithelial tissue, including the mammary gland and epidermis, where it is indispensable to… 
2016
2016
Cytopenia, Predisposition to Myelodysplastic Syndrome, Immunodeficiency, and Neurological Disease Caused By Gain-of-Function SAMD9L Mutations Is Frequently Ameliorated By Hematopoietic Revertant…
Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematopoietic diseases characterized by impaired hematopoiesis… 
2014
2014
A long lasting puzzle for −7/7q− syndrome
Chromosomal aberrations are major characteristics of cancer cells. In hematopoietic malignancies, while chromosomal… 
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