Loss-of-Function Variants in

Humans beta-Thalassemia / genetics Heterozygote Loss of Function Mutation Phenotype Nuclear Proteins / genetics Transcriptional Elongation Factors / genetics
SUPT5H beta-thalassemia hematology hemoglobin modifying factor molecular diagnosis β-thalassemia intermedia

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
16 Aug 2024
Historique:
received: 04 07 2024
revised: 09 08 2024
accepted: 12 08 2024
medline: 31 8 2024
pubmed: 31 8 2024
entrez: 29 8 2024
Statut: epublish

Résumé

It is well known that modifiers play a role in ameliorating or exacerbating disease phenotypes in patients and carriers of recessively inherited disorders such as sickle cell disease and thalassemia. Here, we give an overview of the literature concerning a recently described association in carriers of

Identifiants

DOI: 10.3390/ijms25168928 PMID: 39201615
pubmed: 39201615
pii: ijms25168928
doi: 10.3390/ijms25168928
pii:
doi:

Substances chimiques

SUPT5H protein, human 0
Nuclear Proteins 0
Transcriptional Elongation Factors 0

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Auteurs

Cornelis L Harteveld (CL)

Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.

Ahlem Achour (A)

Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.
Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis 3000, Tunisia.
ORCID: 0000-0001-5262-434X

Nik Fatma Fairuz Mohd Hasan (NF)

Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.
Department of Pathology, Hospital Raja Perempuan Zainab II, Kota Bharu 15400, Malaysia.
ORCID: 0009-0007-3593-6350

Jelmer Legebeke (J)

Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.
ORCID: 0000-0003-1194-8959

Sandra J G Arkesteijn (SJG)

Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.

Jeanet Ter Huurne (JT)

Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.

Maaike Verschuren (M)

Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.

Sharda Bhagwandien-Bisoen (S)

Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.

Rianne Schaap (R)

Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.

Linda Vijfhuizen (L)

Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.

Hakima El Idrissi (HE)

Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.

Christian Babbs (C)

Radcliffe Department of Medicine, Medical Sciences Division, University of Oxford, Oxford OX3 9DU, UK.

Douglas R Higgs (DR)

Radcliffe Department of Medicine, Medical Sciences Division, University of Oxford, Oxford OX3 9DU, UK.

Tamara T Koopmann (TT)

Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.
ORCID: 0009-0008-9632-6713

Christina Vrettou (C)

Laboratory of Medical Genetics, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, 115 27 Athens, Greece.

Joanne Traeger-Synodinos (J)

Laboratory of Medical Genetics, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, 115 27 Athens, Greece.
ORCID: 0000-0002-1860-5628

Frank Baas (F)

Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Loss-of-Function Variants in
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Hémoglobinopathies › Thalassémie › bêta-Thalassémie › Loss-of-Function Variants in
questionsmedicales.fr › Phénomènes génétiques › Génotype › Hétérozygote › Loss-of-Function Variants in
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation perte de fonction › Loss-of-Function Variants in
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Loss-of-Function Variants in
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines nucléaires › Loss-of-Function Variants in
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Facteurs d'élongation transcriptionnelle › Loss-of-Function Variants in