Age-related clonal hematopoiesis
LI Shlush - Blood, The Journal of the American Society of …, 2018 - ashpublications.org
Age-related alterations in the human blood system occur in B cells, T cells, cells of the innate
system, as well as hematopoietic stem and progenitor cells (HSPCs). Interestingly, age …
system, as well as hematopoietic stem and progenitor cells (HSPCs). Interestingly, age …
Roles of JAK2 in aging, inflammation, hematopoiesis and malignant transformation
Clonal alterations in hematopoietic cells occur during aging and are often associated with
the establishment of a subclinical inflammatory environment. Several age-related conditions …
the establishment of a subclinical inflammatory environment. Several age-related conditions …
X‐chromosome inactivation in female patients with Fabry disease
L Echevarria, K Benistan, A Toussaint… - Clinical …, 2016 - Wiley Online Library
Fabry disease (FD) is an X‐linked genetic disorder caused by the deficient activity of
lysosomal α‐galactosidase (α‐Gal). While males are usually severely affected, clinical …
lysosomal α‐galactosidase (α‐Gal). While males are usually severely affected, clinical …
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia
WJ Song, MG Sullivan, RD Legare, S Hutchings… - Nature …, 1999 - nature.com
Familial platelet disorder with predisposition to acute myelogenous leukaemia (FPD/AML,
MIM 601399) is an autosomal dominant disorder characterized by qualitative and …
MIM 601399) is an autosomal dominant disorder characterized by qualitative and …
X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a “European Community Alport …
JP Jais, B Knebelmann, I Giatras… - Journal of the …, 2003 - journals.lww.com
Alport syndrome (AS) is a type IV collagen hereditary disease characterized by progressive
hematuric nephritis, hearing loss, and ocular changes. Mutations in the COL4A5 collagen …
hematuric nephritis, hearing loss, and ocular changes. Mutations in the COL4A5 collagen …
Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age
L Busque, R Mio, J Mattioli, E Brais, N Blais, Y Lalonde… - 1996 - ashpublications.org
The utility of X-inactivation based clonality assays for evaluation of human neoplasia is well-
documented. However, excessive Lyonization is a potential limitation of these assays …
documented. However, excessive Lyonization is a potential limitation of these assays …
Leber hereditary optic neuropathy
PYW Man, DM Turnbull, PF Chinnery - Journal of medical genetics, 2002 - jmg.bmj.com
Leber hereditary optic neuropathy (LHON) is a mitochondrial genetic disease that
preferentially causes blindness in young adult males, affecting about 1 in 25 000 of the …
preferentially causes blindness in young adult males, affecting about 1 in 25 000 of the …
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
LS Weaving, J Christodoulou, SL Williamson… - The American Journal of …, 2004 - cell.com
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic
cases, by mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). A large …
cases, by mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). A large …
Clonality and altered behavior of endothelial cells from hemangiomas
E Boye, Y Yu, G Paranya, JB Mulliken… - The Journal of …, 2001 - Am Soc Clin Investig
Hemangioma, the most common tumor of infancy, is a benign vascular neoplasm of
unknown etiology. We show, for the first time to our knowledge, that endothelial cells from …
unknown etiology. We show, for the first time to our knowledge, that endothelial cells from …
Age-and tissue-specific variation of X chromosome inactivation ratios in normal women
A Sharp, D Robinson, P Jacobs - Human genetics, 2000 - Springer
The incidence of skewed X-inactivation in normal women is controversial, with up to 10-fold
differences being reported by different authors. In order to clarify this issue, we have …
differences being reported by different authors. In order to clarify this issue, we have …