We report a family in which two siblings are compound heterozygotes for Hb S [beta6(A3)GluVal] and a rare beta-globin mutation [IVS-I (-2) (A>C)]. Both patients had significant levels of Hb A, indicating that the IVS-I (-2) mutation is a relatively mild beta(+)-thalassemia (beta(+)-thal) allele. This mutation, in compound heterozygosity with Hb S, does not necessarily lead to a mild clinical course.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1080/03630260802004459 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Unraveling the complexity of HRD assessment in ovarian cancer by combining genomic and functional approaches: translational analyses of MITO16-MaNGO-OV-2 trial.
ESMO Open
January 2025
Uro-Gynecologic Oncology Unit, Istituto Nazionale Tumori IRCCS Fondazione G. Pascale, Naples, Italy. Electronic address:
Background: Ovarian cancer (OvC) constitutes significant management challenges primarily due to its late-stage diagnosis and the development of resistance to chemotherapy. The standard treatment regimen typically includes carboplatin and paclitaxel, with the addition of poly (ADP-ribose) polymerase inhibitors for patients with high-grade serous ovarian cancer (HGSOC) harboring BRCA1/2 mutations. However, the variability in treatment responses suggests the need to investigate factors beyond BRCA1/2 mutations, such as DNA repair mechanisms and epigenetic alterations.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
University of Missouri, Columbia, MO, USA.
Background: This study was to elucidate the impact of blast-induced neurotrauma (BINT) on phosphoproteome networks and cognition in a genetically heterogeneous population of mice (rTg4510) with the human tau P301L mutation linked to Alzheimer's disease-related dementia (ADRD) including frontotemporal dementia.
Method: Mild traumatic brain injury was induced in rTg4510 mice exposed to a single low-density blast (LIB) at an upright position. After assessment of cognitive function by the automated-Home Cage Monitoring (aHCM) system, frontal cortex tissue was collected at 40 days post-injury.
Basic Science and Pathogenesis.
Alzheimers Dement
December 2024
Yale School of Medicine, New Haven, CT, USA.
Background: While the apolipoprotein E (APOE) ε4 allele is a well-known risk factor for late-onset Alzheimer's disease (LOAD), not all carriers develop the condition, suggesting the presence of resilience and/or risk factors. The molecular signatures of resilience/risk in the brain, however, have not been thoroughly described, partly due to the scarcity of healthy APOEe4 carriers. This study addresses this gap using a novel multi-tissue, multi-omic dataset from the Religious Order Study and Memory and Aging Project cohorts highly enriched in APOEe4 carriers with and without LOAD.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
University of Alabama at Birmingham, Birmingham, AL, USA.
Progranulin is a secreted pro-protein that is necessary for maintaining lysosomal function and exerts anti-inflammatory and neurotrophic effects in the brain. Loss-of-function GRN mutations, most of which cause progranulin haploinsufficiency, are a major autosomal dominant cause of frontotemporal dementia (FTD). Other GRN variants are associated with risk for FTD, Alzheimer's disease (AD) and Parkinson's disease.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
The Taub Institute for Research on Alzheimer's Disease and The Aging Brain, Columbia University, New York, NY, USA.
Background: At least one-third of the identified risk alleles from Genome Wide Association Studies of Alzheimer's disease (AD) are involved in lipid metabolism, lipid transport, or direct lipid binding. BIN1 which is also known as Amphiphysin 2; and PICALM which are involved in phosphoinositide metabolism and binding rank just below the highest risk gene variant of Apolipoprotein E (ApoEε4), a cholesterol and phospholipid transporter. In addition to genetic variants, lipidomic studies have reported severe metabolic dysregulation in human autopsy brain tissue, CSF, blood and multiple mouse models of AD.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!