Results 71 to 80 of about 8,373,614 (131)

X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?

, 2001
Objectives: The syndrome of X-linked sideroblastic anaemia with ataxia is rare, described only twice in the literature. The aim was to obtain clinical neurological and haematological data about this rare syndrome throughout adult life.Methods: A family ...
Hammans, S.R., K D Hellier, Hellier, K.D., Hatchwell, E., Kew, J., Duncombe, A.S.   +5 more
core   +1 more source

C-Terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload

, 2008
All reported mutations in ALAS2, which encodes the rate-regulating enzyme of erythroid heme biosynthesis, cause X-linked sideroblastic anemia. We describe eight families with ALAS2 deletions, either c.1706-1709 delAGTG (p.E569GfsX24) or c.1699-1700 delAT
Deybach, Jean-Charles, Badminton, Michael N., Marsden, Joanne T., Ma, Yun, Grandchamp, Bernard, Corrigall, Anne V., Whatley, Sharon D., Gouya, Laurent, Mieli-Vergani, Giorgina, Holme, Alexander, Meissner, Peter N., Parker, Michelle, Ducamp, Sarah, Anstey, Alexander V., Badminton, Michael Norman, Beaumont, Carole, Holme, S. Alexander, Puy, Hervé, Anstey, Alexander Vincent, Elder, George H., Hift, Richard J.   +20 more
core   +1 more source

Highly efficient gene editing and single cell analysis of hematopoietic stem/progenitor cells from X-linked sideroblastic anemia patients

Signal Transduction and Targeted Therapy, 2021
Riguo Fang, Jingliao Zhang, Huihui Yang, Jia Shi, Huimin Zeng, Xiaofan Zhu, Dong Wei, Pengfei Yuan, Tao Cheng, Yingchi Zhang   +9 more
doaj   +1 more source

CLONING AND EXPRESSION OF THE MURINE HOMOLOG OF A PUTATIVE HUMAN X-LINKED NUCLEAR-PROTEIN GENE CLOSELY LINKED TO PGK1 IN XQ13.3

, 1994
Several human inherited diseases have been localized to the Xq13.3 region of the human X chromosome (X-linked dystonia with Parkinsonism, sideroblastic anemia, SCID, Menkes disease and X-linked mental retardation loci).
STAYTON C, FONTES M., MILLASSEAU P, KHRESTCHATISKY M, GECZ J, VILLARD L, POLLARD H, CONSALEZ , GIAN GIACOMO   +7 more
core   +1 more source

Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing

, 2015
The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by the presence of ring sideroblasts in the bone marrow. X-linked sideroblastic anemia (XLSA) is caused by germline mutations in ALAS2. Hemizygous males
CAZZOLA, MARIO, MALCOVATI, LUCA
core   +1 more source

X-linked sideroblastic anemia and spinocerebellar ataxia [PDF]

, 2020
openaire   +1 more source

Molecular genetics of “X‐linked” sideroblastic anemia

American Journal of Hematology, 1995
Marina Mantzourani, Kostas Konstantopoulos, Ersi Voskaridou, Dimitris Loukopoulos   +3 more
openaire   +3 more sources

X-linked sideroblastic anemia [PDF]

, 2020
openaire   +1 more source

Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry

, 2016
X-linked congenital cerebellar ataxia is a heterogeneous nonprogressive neurodevelopmental disorder with onset in early childhood. We searched for a genetic cause of this condition, previously reported in a Buryat pedigree of Mongolian ancestry from ...
Tatiana V Tyazhelova, Alexander E Laptenko, Laptenko, Alexander E., Tatiana V Andreeva, Irina L Kuznetsova, Tyazhelova, Tatiana V., Kuznetsova, Irina L., Evgeny I Rogaev, Andreeva, Tatiana V., Anastasia P Grigorenko, Denis A Reshetov, Goltsov, Andrey Y., Protasova, Maria S., Grigorenko, Anastasia P., Andrey Y Goltsov, Reshetov, Denis A., Gusev, Fedor E., Sergey A Klyushnikov, Maria S Protasova, Sergey N Illarioshkin, Klyushnikov, Sergey A., Fedor E Gusev, Rogaev, Evgeny I, Illarioshkin, Sergey N.   +23 more
core   +1 more source

Publication Only

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source