Results 41 to 50 of about 1,366 (166)

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations [PDF]

, 2014
X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia. In affected males, it is uniformly associated with partial loss-of-function missense mutations in the erythroid-specific heme biosynthesis protein 5 ...
van Wijk, Richard, Bottomley, Syliva S., Anoop K. Sendamarai, Fleming, M.D., Raymakers, R.A.P., Klaus Schmitz‐Abe, Swinkels, Dorine W, Sendamarai, Anoop K, Campagna, Dean R, Caroline Kannengiesser, de Bie, Charlotte I, Swinkels, D.W., Campagna, Dean R., Swart, S., Knoers, Nine V A M, Nine V.A.M. Knoers, Heeney, Matthew M., Raymakers, Reinier A., Schmitz-Abe, K., Schmidt, P.J., Sonia Swart, de Bie, Charlotte I., Charlotte M. Niemeyer, Yntema, Helger G, Alison May, Gordon Marron, Dean R. Campagna, Bottomley, Sylvia S., Sendamarai, A.K., Niemeyer, Charlotte Marie, Niemeyer, Charlotte M, Campagna, D.R., Schmidt, Paul J., Markianos, K., Kyriacos Markianos, Kannengiesser, Caroline, Markianos, Kyriacos, May, A., Bernard Grandchamp, Heeney, M.M., Bottomley, Sylvia S, Bie, C.I. De, Niemeyer, C.M., Grandchamp, Bernard, Swinkels, Dorine W., Heeney, Matthew M, Reinier A. Raymakers, Helger G. Yntema, Bottomley, S.S., Sweeney, Marion Carol, Bie, Charlotte I. de, Knoers, N.V.A.M., Paul J. Schmidt, Marron, G., Charlotte I. de Bie, Sweeney, M., Raymakers, Reinier A, Mark D. Fleming, Kannengiesser, C., Marron, Gordon, Swart, Sonia, Fleming, Mark D., Yntema, Helger G., Niemeyer, Charlotte M., Knoers, Nine V. A. M., Sendamarai, Anoop K., Fleming, Mark D, May, Alison, Sylvia S. Bottomley, Wijk, R. van, Marion Sweeney, Dorine W. Swinkels, Schmitz-Abe, Klaus, Schmidt, Paul J, Matthew M. Heeney, Sweeney, Marion, Richard van Wijk, Grandchamp, B., Yntema, H.G.   +78 more
core   +1 more source

Pyridoxine Response in Mouse Alas2 Knock-in Models of X-Linked Sideroblastic Anemia and X-Linked Protoporphyria

Blood, 2021
Introduction. Pyridoxal 5' Phosphate (PLP) is the cofactor form of vitamin B6 in ~60 human enzymes. The first enzyme of the heme biosynthesis pathway, delta-aminolevulinic acid synthase (ALAS), that catalyzes the condensation of glycine and succinyl ...
S. Ducamp, P. Schmidt, D. Campagna, M. D. Fleming   +3 more
semanticscholar   +1 more source

Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria

Molecular Medicine, 2013
X-linked protoporphyria (XLP) (MIM 300752) is a recently recognized erythropoietic porphyria due to gain-of-function mutations in the erythroid-specific aminolevulinate synthase gene (ALAS2).
David F. Bishop, Vassili Tchaikovskii, Irina Nazarenko, Robert J. Desnick   +3 more
doaj   +1 more source

Gene expression profile of peripheral blood mononuclear cells in mild to moderate obesity in dogs

Veterinary and Animal Science, 2021
Background: Molecular mechanisms and early diagnosis on the development of mild to moderate of canine obesity are not understood although recent dog obesity is a widespread problem. To understand the differences between normal weight and mild to moderate
Sayaka Miyai, Amin Omar Hendawy, Kan Sato   +2 more
doaj   +1 more source

Nucleotide Variation at Msn and Alas2, Two Genes Flanking the Centromere of the X Chromosome in Humans [PDF]

Genetics, 2004
Abstract The centromeric region of the X chromosome in humans experiences low rates of recombination over a considerable physical distance. In such a region, the effects of selection may extend to linked sites that are far away. To investigate the effects of this recombinational environment on patterns of nucleotide variability, we ...
Michael W, Nachman, Susan L, D'Agostino, Christopher R, Tillquist, Zahra, Mobasher, Michael F, Hammer   +4 more
openaire   +2 more sources

Hypoxia Impairs Monocyte/Macrophage Function and Host Defense via ALAS2-Mediated Heme Biosynthesis in Japanese Sea Bass (Lateolabrax japonicus).

Developmental and Comparative Immunology
Hypoxia compromises host defense in fish by impairing macrophage function, but the underlying mechanisms remain unclear. This study elucidates the molecular mechanisms by which hypoxia disrupts monocytes/macrophages (MO/MФ) function in Japanese sea bass (
Wei Fang, Yi-Xin Wu, Yingbin Cao, Xin-Jiang Lu, Jian-Rao Hu   +4 more
semanticscholar   +1 more source

ALAS2 gene sequencing

, 2021
In my bachelor thesis I dealt with the detection of mutations in the ALAS2. In the theoretical part, I dealt with the introduction to genetic concepts and the field of genetics itself.
HOLOUBKOVÁ, Renata
core  

Severe iron overload in a woman with homeostatic iron regulator (HFE) and a novel 5ʹ‐aminolevulinate synthase 2 (ALAS2) mutations: interactions of multiple genetic determinants

British Journal of Haematology, 2021
A 37-year-old Caucasian woman was examined in October 2012 for asthenia lasting for 6 years and persistent amenorrhea for 18 months (following the arrest of a progestogenonly contraception started after her last delivery). She had two children aged 6 and
Christian Gennes, J. Lamoril, A. Borgel, Camille Boi, Raphaël Yao, C. Boileau, Dimitri Tchernitchko   +6 more
semanticscholar   +1 more source

Supplementary figure 2: Monitoring of hemoglobin and erythropoiesis-related mRNA with dried-blood spots in athletes and patients

, 2022
Patient 3 biological passport and Expression levels of both ALAS2 LC and ALAS2 L mRNA and the mean of these expression levels in patients 1 ...
Angela Rocca (12099974), Menno Pruijm (541636), Nicolas Leuenberger (424759), Francesco Loria (12099968), Tiia Kuuranne (11565864), Silke Grabherr (7750880), Andreas P Stutz (12099971)   +6 more
core   +1 more source

Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria

Molecular Medicine, 2013
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inborn errors of heme biosynthesis with the same phenotype but resulting from autosomal recessive loss-of-function mutations in the ferrochelatase (FECH) gene and gain-of-function ...
Manisha Balwani, Dana Doheny, David F. Bishop, Irina Nazarenko, Makiko Yasuda, Harry A. Dailey, Karl E. Anderson, D. Montgomery Bissell, Joseph Bloomer, Herbert L. Bonkovsky, John D. Phillips, Lawrence Liu, Robert J. Desnick, The Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network   +13 more
doaj   +1 more source