Mechanisms of choice in X-chromosome inactivation

G Furlan, R Galupa - Cells, 2022 - mdpi.com
Early in development, placental and marsupial mammals harbouring at least two X
chromosomes per nucleus are faced with a choice that affects the rest of their lives: which of …

Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly

F Zink, SN Stacey, GL Norddahl… - Blood, The Journal …, 2017 - ashpublications.org
Clonal hematopoiesis (CH) arises when a substantial proportion of mature blood cells is
derived from a single dominant hematopoietic stem cell lineage. Somatic mutations in …

Turning the tide in myelodysplastic/myeloproliferative neoplasms

MWN Deininger, JW Tyner, E Solary - Nature Reviews Cancer, 2017 - nature.com
Myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN) are aggressive
myeloid malignancies recognized as a distinct category owing to their unique combination of …

Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis

R Saiki, Y Momozawa, Y Nannya, MM Nakagawa… - Nature medicine, 2021 - nature.com
Clonal hematopoiesis (CH) in apparently healthy individuals is implicated in the
development of hematological malignancies (HM) and cardiovascular diseases. Previous …

Langerhans'-cell histiocytosis (histiocytosis X)--a clonal proliferative disease

CL Willman, L Busque, BB Griffith… - … England Journal of …, 1994 - Mass Medical Soc
Background The lesions of Langerhans'-cell histiocytosis (histiocytosis X), a proliferative
histiocytic disorder of unknown cause, contain histiocytes similar in phenotype to dendritic …

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 …

[PDF][PDF] Glucose-6-phosphate dehydrogenase deficiency

L Luzzatto, A Mehta, T Vulliamy - The metabolic and molecular …, 2001 - thebloodproject.com
G6PD was discovered and biochemically characterized in 1932 by Otto Warburg and Walter
Christian 1 in yeast and in red cells as an enzyme with a redox function. It was one of the first …

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 …

Acquired skewing of X‐chromosome inactivation patterns in myeloid cells of the elderly suggests stochastic clonal loss with age

RE Gale, AK Fielding, CN Harrison… - British journal of …, 1997 - Wiley Online Library
More frequent skewing of X‐chromosome inactivation patterns (XCIPs) occurs in the white
blood cells of elderly females; this study was performed to determine whether this occurs in …

Clonal haemopoiesis in normal elderly women: implications for the myeloproliferative disorders and myelodysplastic syndromes

KM Champion, JGR Gilbert… - British journal of …, 1997 - Wiley Online Library
Studies of X chromosome inactivation patterns are central to many aspects of our
understanding of the pathogenesis of haematological malignancies. In patients with …