Results 61 to 70 of about 1,160,233 (174)

Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations. [PDF]

, 2011
X-linked Sideroblastic Anemia (XLSA) is the most common genetic form of sideroblastic anemia, a heterogeneous group of disorders characterized by iron deposits in the mitochondria of erythroid precursors.
Deybach, Jean-Charles, Kannengiesser, Caroline, Christiane Vermylen, Bernard Grandchamp, Sarah Ducamp, Guichard, Jean François, Grandchamp, Bernard, Talbi, Neila, Carole Beaumont, Caroline Kannengiesser, Neila Talbi, Ducamp, Sarah, Garçon, Loïc, Hermann Heimpel, Mansuy, Ludovic, Gérard Tertian, Thomas Matthes, Heimpel, Hermann, Agnès Guerci-Bresler, Ludovic Mansuy, Dochir, Joaquim, Guichard, Jean-François, Hélène A. Poirel, Jean François Guichard, Guerci-Bresler, Agnès, Loïc Garçon, Fanny Fouyssac, Hervé Puy, Leroux, Geneviève, Geneviève Leroux, Robert Girot, Fouyssac, Fanny, Mohamed Touati, Poirel, Hélène Antoine, Girot, Robert, Touati, Mohamed, Poirel, Hélène A, Tertian, Gérard, Beaumont, Carole, Joaquim Dochir, Jean-Charles Deybach, Puy, Hervé, Vermylen, Christiane, Poirel, Hélène, Matthes, Thomas   +44 more
core   +1 more source

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, Volume 109, Issue 4, Page 717-724, April 2026.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source

The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation. [PDF]

Sci Rep
X-linked sideroblastic anemia (XLSA) is a hereditary disorder affecting heme biosynthesis, caused by mutations in the ALAS2 gene, which encodes the erythroid-specific enzyme 5-aminolevulinate synthase.
Jové-Solavera D, Rámila M, Ferrer-Cortés X, Olivella M, Venturi V, Morado M, Hernández-Rodríguez I, Khan A, Pérez-Montero S, Tornador C, Germing U, Gattermann N, Sanchez M.   +12 more
europepmc   +2 more sources

Removal of Toxic Metabolites—Chelation: Manganese Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Manganese (Mn) overload is a characteristic of multiple disease entities, from acquired manganism upon environmental or occupational overexposure, to end‐stage liver disease and certain genetic disorders. The latter include hypermanganesaemia with dystonia 1 and 2 caused by pathogenic variants in the genes encoding the Mn transporters SLC30A10
Hendrik Vogt, George E. Kostakis, Rupert Purchase, John Spencer, Karin Tuschl   +4 more
wiley   +1 more source

Table1_Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review.docx

, 2023
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is a serious autosomal recessive syndrome caused by biallelic mutations in cytosine–cytosine–adenosine tRNA nucleotidyltransferase 1 (TRNT1).
Suyun Cheng (14703256), Fang Fu (507742), Xiangyuan Chen (9658136), Huasong Zeng (7469195), Xiaolan Mo (7469189)   +4 more
core   +1 more source

Socio‐Epidemiological Correlates of Anemia Among Non‐Pregnant Females of East and West Uttar Pradesh, India: A NFHS‐5 Secondary Data Analysis Highlighting the Need for Precision Public Policy

Public Health Challenges, Volume 4, Issue 3, September 2025.
ABSTRACT Anemia remains a persistent public health challenge in India, disproportionately affecting women and undermining maternal and reproductive health outcomes. Despite nationwide efforts, the burden of anemia continues to vary widely across regions, reflecting complex socio‐demographic determinants.
Sonam Maheshwari, Richa Sinha, Neil Patel, Okashah Kaiwan, Avisham Goyal, Oroshay Kaiwan, Inderbir Padda, Nidhi Uniyal, Mohammed K. Suhail, Talha Bin Emran, Nirja Kaka, Yashendra Sethi   +11 more
wiley   +1 more source

Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia [PDF]

, 2011
BACKGROUND: Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and some occur within a syndrome.
Sevilla Navarro, Julian, Kannengiesser, Caroline, Moran, Erica, J. Sevilla Navarro, M. Sanchez, Grandchamp, Bernard, Fuster Soler, Jose L, C. Kannengiesser, Lascaux, Axelle, C. Beaumont, Maloum, Karim, A. Lascaux, C. Oudot, E. Moran, Sanchez, Mayka, G. Hetet, J. L. Fuster Soler, C. Pondarre, Hetet, Gilles, M. Sweeney, Vidyatilake, Sudharma, Pondarre, Corinne, Kerr, Briedgeen, Fuster Soler, Jose L., B. Kerr, B. Grandchamp, A. May, May, Alison, K. Maloum, T. Matthes, S. Vidyatilake, Beaumont, Carole, Sweeney, Marion, Matthes, Thomas, Oudot, Caroline   +34 more
core   +1 more source

Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia

, 1995
The erythroid-specific isozyme of 5-aminolevulinate synthase (ALAS2), the first and ratelimiting enzyme of heme biosynthesis, is expressed concomitantly with the differentiation and maturation of the erythroid cell in order to accommodate generation of ...
Cox, T., Bishop, D., May, B., Bottomley, S., Cotter, P.   +4 more
core   +1 more source

Assignment of human erythroid [delta]-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X;Autosome translocations [PDF]

, 1992
The erythroid-specific (ALAS2) and housekeeping (ALAS1) genes encoding [delta]-aminolevulinate synthase have recently been mapped to chromosomes Xq21.1-->q21 and 3p21, respectively. The erythroid-specific gene is a candidate for mutations resulting in
Cotter, Philip D., Bishop, David F., Willard, Huntington F., Gorski, Jerome L.   +3 more
core   +1 more source

Tandem combination of ASCT and CAR T‐cell therapy in highly refractory CNS lymphomas

British Journal of Haematology, Volume 207, Issue 5, Page 2178-2182, November 2025.
Lydia Montes, Sylvain Choquet, Madalina Uzunov, Véronique Morel, Marine Baron, Damien Roos‐Weil, Magalie Joris, Caroline Delette, Delphine Lebon, Nabih Azar, Carole Metz, Lucia Nichelli, Magali Le Garff‐Tavernier, Clémentine Boccon‐Gibod, Claire Lacan, Laetitia Souchet, Khê Hoang‐Xuan, Carole Soussain, Inès Boussen, Caroline Houillier   +19 more
wiley   +1 more source