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| http://dx.doi.org/10.2450/2010.0085-10 | DOI Listing |
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Mutant Fam20c knock-in mice recapitulate both lethal and non-lethal human Raine Syndrome.
BMC Mol Cell Biol
January 2025
Department of Stomatology, The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, 150001, China.
Background: Inactivation or mutations of FAM20C causes human Raine Syndrome, which manifests as lethal osteosclerosis bone dysplasia or non-lethal hypophosphatemia rickets. However, it is only hypophosphatemia rickets that was reported in the mice with Fam20c deletion or mutations. To further investigate the local and global impacts of Fam20c mutation, we constructed a knock-in allele carrying Fam20c mutation (D446N) found in the non-lethal Raine Syndrome.
View Article and Find Full Text PDFReduced GATA1 levels are associated with ineffective erythropoiesis in sickle cell anemia.
Haematologica
December 2024
Red Cell Haematology Lab, Comprehensive Cancer Centre, School of Cancer and Pharmaceutical Sciences, King's College London.
Ineffective erythropoiesis (IE) is defined as the abnormal differentiation and excessive destruction of erythroblasts in the marrow, accompanied by an expanded progenitor compartment and relative reduction in the production of reticulocytes. It is a defining feature of many types of anemia, including beta-thalassemia. GATA1 is an essential transcription factor for erythroid differentiation, known to be implicated in hematological conditions presenting with IE, including beta-thalassemia and congenital dyserythropoietic anemia.
View Article and Find Full Text PDFThe unlikely combination: Anderson-Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient.
Clin Case Rep
October 2024
Academic Health System Department Hamad Medical Corporation Doha Qatar.
Article Synopsis
- - Anderson-Fabry disease (AFD) is a rare X-linked lysosomal disorder affecting lipid storage, while congenital dyserythropoietic anemia (CDA) Type II is an autosomal recessive blood condition related to ineffective red blood cell production.
- - The co-occurrence of AFD and CDA Type II is extremely rare and has never been documented before, making this case particularly significant.
- - Early screening and genetic counseling are vital for families, especially for children presenting unusual symptoms related to these distinct genetic disorders.
Comment on: Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: A new case with dysmorphic male genitalia. Report of a second case.
Pediatr Blood Cancer
November 2024
Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Inflammatory turmoil within: an exploration of autoinflammatory disease genetic underpinnings, clinical presentations, and therapeutic approaches.
Adv Rheumatol
August 2024
Universidade de Sao Paulo, Faculdade de Medicina (USP FM), Sao Paulo, Brazil.
Article Synopsis
- - Systemic autoinflammatory diseases (SAIDs) result from an overactive innate immune system, leading to widespread inflammation and are caused by various genetic defects that complicate diagnosis.
- - Despite advancements in genetic testing, around 40% of SAIDs patients still do not have a clear genetic diagnosis, and the disorders are grouped based on their unique pathophysiological features including inflammasomopathies and relopathies.
- - Targeted treatments are crucial, utilizing agents like JAK inhibitors and IL-1 blockers, to manage the distinct clinical presentations and inflammation associated with these complex diseases.
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