Anemia, Sideroblastic X-Linked
Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing
... Congenital sideroblastic anemias (CSAs) are rare diseases that are typically characterized by germline genetic muta- tions that cause defects in mitochondrial heme synthesis, iron-sulfur cluster metabolism, or ...
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X linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation
... causing sideroblastic anemia are partial LOF alleles affecting heme biosynthesis (12, 13, 15), complete ALAS2 LOF in mouse models results in an early block of erythropoiesis at approximately the ...
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Interaction between succinyl CoA synthetase and the heme biosynthetic enzyme ALAS E is disrupted in sideroblastic anemia
... pyridoxine-refractory X-linked sideroblastic anemia, our findings suggest that appro- priate association of SCS-βA and ALAS-E promotes efficient use of succinyl CoA by ALAS-E or helps ...
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Late onset X linked sideroblastic anemia Missense mutations in the erythroid delta aminolevulinate synthase (ALAS2) gene in two pyridoxine responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts
... Abbreviations used in this paper: ALAS, aminolevulinate synthase; ALAS2, erythroid-specific 6-ALAS gene; Hb, hemoglobin; MBP, maltose-binding protein; MCV, mean corpuscular volume; nt, n[r] ...
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The Evolution of X-Linked Genomic Imprinting
... allow continuous change in the level of gene expression in females, this results in higher expression from m, the (Iwasa et al. 1991; Mochizuki et al. 1996). An alternative maternal copy, than from p, the paternal copy ...
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A Case Report of X-Linked Hyperimmunoglobulin M Syndrome with Lipoma Arborescens of Knees
... The X-linked hyperimmunoglobulin M syndrome (HIGM), caused by mutations in the CD40LG gene, is a kind of primary immunodeficiency disease ...with X-linked HIGM are susceptible to infection as ...
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Clinical Reasoning: A 56-year-old man with progressive spasticity
... MRI of the brain and spinal cord were normal. Because of the positive family history, the negative spine MRI, and the chronic and very slow progression of his disease, we strongly suspected an inherited dis- order. The ...
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Identification and Characterization of Subpopulations of Lymphocytes in Human Peripheral Blood after Fractionation on Discontinuous Gradients of Albumin THE CELLULAR DEFECT IN X LINKED AGAMMAGLOBULINEMIA
... proved X-linked agammaglobulinemia and two with probable X-linked agammaglobulinemia were found to be totally deficient in B lymphocytes (fractions 6-9) and lacked the subpopulation identified ...
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Update on oral-facial-digital syndromes (OFDS)
... an X-linked dominant condition with male lethality, which usually occurs during the first and second trimester of pregnancy ...the X chromosome ...
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Association of HLA linked hemochromatosis with idiopathic refractory sideroblastic anemia
... refractory sideroblastic anemia carry a single allele for hemochromatosis, that this allele accounts for the increased iron loading in this form of anemia, and that clinically manifest ...
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JM2, encoding a fork head–related protein, is mutated in X linked autoimmunity–allergic disregulation syndrome
... the X chromosome mark- ers: DXS1223, DXS1068, DXS6810, DXS7132, DXS6800, DXS6789, DXS6797, DXS1047, and DXS7127, which cover an estimated 76 cM interval on the X chromosome on the sex-averaged Marshfield ...
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X chromosome duplications affect a region of the chromosome they do not duplicate in Caenorhabditis elegans.
... We show here that duplications suppress an X-linked hypomorphic mutation and elevate the level of activity of an X-linked enzyme, although these two genes are located in a re[r] ...
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RICKETS AND MYOPATHY CURED BY REMOVAL OF A NONOSSIFYING FIBROMA OF BONE
... parathyroid hormone-sensitive component of phosphate transport in X-linked hypophos- phatemia. Arnaud, C., Glonieux, F., and Scriver, C.: Serum parathyroid hormone in X-linked hypophosph[r] ...
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Alpha thalassaemia-mental retardation, X linked
... The effects of ATRX mutations on the chromatin structure of the rDNA arrays located in these regions have been studied. Although no gross changes in DNAase1, micro- coccal nuclease or endonuclease accessibility were ...
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A novel X linked combined immunodeficiency disease
... papillomavirus infections. The principal immunologic features of the disorder were normal concentrations of serum immunoglobulins but restricted formation of IgG antibodies to immunogens; normal numbers of B cells and NK ...
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FGF23 and its role in X-linked hypophosphatemia-related morbidity
... Background: X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) ...
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A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita
... Up to date, there is no clear genotype–phenotype correlation of the DAX1 mutations, and especially, no explanation for the difference between a late-onset and a classical X-linked AHC, as well as ...
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The molecular basis of X-linked agammaglobulinemia
... domain. X-ray crystallographic studies of Src SH2 domain have shown that its secondary structure consists of two antiparallel (3 sheets and two surrounding a helices, which together form a binding pocket into ...
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A Genome-Wide Survey of Hybrid Incompatibility Factors by the Introgression of Marked Segments of Drosophila mauritiana Chromosomes into Drosophila simulans
... male hybrids are fertile (while males are sterile) not because their X-linked sterility factors are recessive, but rather because they either have no X-linked female ste- rilit[r] ...
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Molecular genetics of X-linked deafness
... This work was funded by the Medical Research Council and performed in the Molecular Genetics Unit at the Institute of Child Health, London. I would like to thank all the members of the laboratory but particularly Jess ...
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