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Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3.
Mol Genet Genomic Med
January 2025
The State Key Laboratory for Complex Severe and Rare Diseases, the State Key Sci-Tech Infrastructure for Translational Medicine, Peking Union Medical College Hospital, Beijing, China.
Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. While approximately 50 genes have been identified, around 25% of PCD patients remain genetically unexplained; elucidating the pathogenicity of specific variants remains a challenge.
Methods: Whole exome sequencing (WES) and Sanger sequencing were conducted to identify potential pathogenic variants of PCD.
Altered zygotic gene expression caused by sperm with variants disrupts early embryonic development.
MedComm (2020)
January 2025
The precise mechanisms behind early embryonic arrest due to sperm-related factors and the most effective strategies are not yet fully understood. Here, we present two cases of male infertility linked to novel variants, associated with oligoasthenoteratozoospermia (OAT) and early embryonic arrest. To investigate the underlying mechanisms and promising therapeutic approaches, knock-in and knock-out mice were generated.
View Article and Find Full Text PDFRare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA sequencing, development of new computational and experimental approaches to prioritize genes and genetic variants, and increased global exchange of clinical and genetic data. However, more than half of individuals suspected to have a rare disease lack a genetic diagnosis.
View Article and Find Full Text PDFProlonged Severe CD4+ Lymphocytopenia and Hypogammaglobulinemia in Patients With Evans' Syndrome: A Case Report.
Cureus
December 2024
Department of Hematology and Oncology, Toyohashi Municipal Hospital, Toyohashi, JPN.
Primary immunodeficiency (PID) is one of the causes of secondary autoimmune hemolytic anemia (AIHA) and Evans' syndrome (ES). Serum immunoglobulins should be tested in patients with AIHA/ES, as common variable immunodeficiency is the most common PID of secondary AIHA/ES. However, it is not fully understood how immunodeficiency is assessed, in addition to serum immunoglobulins.
View Article and Find Full Text PDFSignificant association between insulin-like growth factor 2 mRNA-binding protein 2, interleukin-6 polymorphisms, and type 2 diabetes mellitus.
J Res Med Sci
November 2024
Department of Medical Laboratory Technology, University of Tabuk, Tabuk, Saudi Arabia.
Background: The study aimed to detect the association between insulin-like growth factor 2 mRNA-binding protein 2 (IGF2BP2) and interleukin-6 (IL-6) polymorphisms among type 2 diabetes mellitus (T2DM).
Materials And Methods: This study involved 500 individuals; 250 obese DM cases and 250 healthy controls. The polymerase chain reaction restriction fragment length polymorphism was used to identify the genotype of the IGF2BP2 gene for the small nucleoproteins rs4402960 (G>T) and small nucleoproteins rs800795 (G>C).
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