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1. Unusual Causes of β Thalassemia Trait: Discovery of another Three Novel SUPT5H Variants NSTL国家科技图书文献中心

Hasan, Nik Fatma Fai... |  Achour, Ahlem... -  《Hemoglobin》 - 2025,49(2) - 145~148 - 共4页

摘要: novel variants of SUPT5H revealed by next generation |  mutations in the beta globin gene. The three novel SUPT5H |  the general observation that most variants in SUPT5H | Beta (beta) thalassemia is an inherited |  disorder that occurs following mutations or deletions in
关键词: Increased Hb A(2) |  SUPT5H |  mutation |  beta thalassemia

2. SUPT5H mutations associated with elevation of Hb A 2 level: Identification of two novel variants and literature review NSTL国家科技图书文献中心

Lin, Zezhang |  Liang, Xiongda... -  《Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function》 - 2024,908 - 148294~148294 - 共6页 - 被引量:3

摘要: novel variants in the SUPT5H gene: a frameshift |  mutation (SUPT5H: c.3032_3033delTG, p. M1011Mfs*9) and a |  nonsense mutation (SUPT5H: c.397C > T, p.Arg133*) in two |  modified the SUPT5H protein's structure, thereby |  mutation spectrum was consolidated for SUPT5H, an
关键词: beta-thalassemia |  Hb A(2 )level |  SUPT5H |  Mutation |  THALASSEMIA

3. Trans-acting genetic modifiers of clinical severity in heterozygous β-Thalassemia trait NSTL国家科技图书文献中心

Joanna B.,Loh |  Jules M.,Ross... -  《Annals of hematology》 - 2024,103(11) - 4437~4447 - 共11页

摘要:-thalassemia trait severity, such as mutations in SUPT5H | Abstract There is a group of beta (β | )-thalassemia trait ‘carriers’ (with heterozygous mutations | ) who should be asymptomatic with minor abnormalities |  in their hematological parameters, but experience
关键词: Thalassemia |  Phenotype |  Mutations |  Anemia

4. beta-Thalassemia Trait Caused by SUPT5H Defects: Another Case Report NSTL国家科技图书文献中心

Xiao, Zhi-Qing |  Jiang, Fan... -  《Hemoglobin: International Journal for Hemoglobin Research》 - 2023,47(1/6) - 145~146 - 共2页 - 被引量:2

摘要:We identified a novel mutation in the SUPT5H |  further supports the role of SUPT5H as a potential beta |  gene in a Chinese female who presented with a beta | -thalassemia trait. The substitution of c.193C > T (p.Arg65 | *) leads to a premature stop codon on residue 65 and
关键词: Haemoglobinopathies |  beta-thalassemia |  SUPT5H |  molecular diagnostics |  DIAGNOSIS |  VARIANTS |  ALPHA

5. A stepwise haematological screening and whole‐exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A2 from a cohort of 47336 individuals NSTL国家科技图书文献中心

Jiwu Lou |  Yuhua Ye... -  《International journal of laboratory hematology》 - 2023,45(1) - 90~95 - 共6页 - 被引量:8

摘要: loss‐of‐function mutation in SUPT5H. Conclusion This |  study has provided a mutation spectrum of SUPT5H in a |  with a combination of β‐thal mutation and a SUPT5H | Abstract Introduction Though an increase in Hb |  A2 is one of the most key markers of β‐thal
关键词: haemoglobin A2 |  mutation |  SUPT5H |  thalassemia

6. RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation NSTL国家科技图书文献中心

Danya J Martell |  Hope E Merens... -  《Developmental cell》 - 2023,58(20) - 2112~2127 - 共16页 - 被引量:10

摘要:-of-function mutations in SUPT5H, which encodes SPT5 |  recapitulated by SUPT5H editing, RNA Pol II pause release was | Controlled release of promoter-proximal paused |  RNA polymerase II (RNA Pol II) is crucial for gene |  regulation. However, studying RNA Pol II pausing is
关键词: RNA Pol II pausing |  SPT5 |  SUPT5H |  cell cycle |  differentiation |  erythropoiesis |  hemoglobin |  human genetic variation |  transcriptional regulation

7. Profiling the male germline genome to unravel its reproductive potential NSTL国家科技图书文献中心

Cheung S. |  Xie P.... -  《Fertility and Sterility: Official Journal of the American Fertility Society, Pacific Coast Fertility Society, and the Canadian Fertility and Andrology Society》 - 2023,119(2) - 196~206 - 共11页 - 被引量:7

摘要: centrosomal integrity (MAP1S, SUPT5H, PLK4), whereas those | ? 2022 The AuthorsObjective: To identify |  specific germline mutations related to sperm reproductive |  competence, in couples with unexplained infertility. Design | : In this retrospective study, couples were divided
关键词: ART failure |  germline mutations |  Intracytoplasmic sperm injection |  sperm DNA |  whole exome sequencing

8. Chemical interference with DSIF complex formation lowers synthesis of mutant huntingtin gene products and curtails mutant phenotypes SCIE Web of Science核心 NSTL国家科技图书文献中心

Deng N |  Wu Y.-Y... -  《Proceedings of the National Academy of Sciences of the United States of America.》 - 2022,119(32) - e2204779119~e2204779119 - 共1页 - 被引量:3

摘要: reduction of the SUPT4H or SUPT5H proteins, which interact | -azauridine (6-AZA), that targets the SUPT4H-SUPT5H | Earlier work has shown that siRNA-mediated |  to form the DSIF complex and facilitate transcript |  elongation by RNA polymerase II (RNAPII), can decrease
关键词: DSIF |  Huntington's disease |  nucleotide repeats |  Spt4 |  SUPT4H

9. Targeting of RNA Polymerase II by a nuclear Legionella pneumophilaLegionella pneumophila Dot/Icm effector SnpL SCOPUS Scopus数据库 SCIE Web of Science核心 NSTL国家科技图书文献中心

Schuelein Ralf |  Spencer Hugh... -  《Cellular microbiology》 - 2018,20(9) - n/a~n/a - 共17页 - 被引量:12

摘要: elongation factor, Suppressor of Ty5 (SUPT5H)/Spt5. SUPT5H |  region of SUPT5H. Ectopic expression of SnpL led to |  Abstract</i></span> | <span><i class="normalText" data-data=""> The intracellular pathogen Legionella |  pneumophila influences numerous eukaryotic cellular
关键词: DSIF |  Dot/Icm effector |  Legionella |  nucleomodulin |  RNA polymerase

10. Maternal methylmercury from a wild-caught walleye diet induces developmental abnormalities in zebrafish SCOPUS Scopus数据库 SCIE Web of Science核心 NSTL国家科技图书文献中心

Liu, Qing |  Klingler, Rebekah H.... -  《Reproductive toxicology》 - 2016,65 - 272~282 - 共11页 - 被引量:11

摘要: transcriptional regulation (such as supt5h) and cell cycle (such | Maternal methylmercury (MeHg) exposure from a |  contaminated diet causes adverse effects in offspring, but |  the underlying mechanism(s) remains unclear. In the |  present study, we investigated the effects of maternal
关键词: MeHg |  Maternal exposure |  Zebrafish |  Offspring |  Toxicity
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