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Peripheral T Cell Development and Immunophenotyping of Twins with Heterozygous FOXN1 Mutations.
Immunohorizons
July 2024
Human Immunology Discovery Initiative of the Vanderbilt Center for Immunobiology, Vanderbilt University Medical Center, Nashville, TN.
Article Synopsis
- FOXN1 is a transcription factor crucial for thymus development and T cell maturation, with variants potentially leading to T cell deficiencies at birth.
- A study examined fraternal twins with a specific FOXN1 variant, highlighting their immune development and changes over time, including effects seen in their father with the same variant.
- The FOXN1 variant shows different impacts on gene regulation, indicating that the type of mutation can influence its pathogenic effects, which may help in guiding treatment options and understanding infection or autoimmunity risks.
First copy number variant in trans with single nucleotide variant in CCN6 causing progressive pseudorheumatoid dysplasia revealed by genome sequencing and deep phenotyping in monozygotic twins.
Am J Med Genet A
November 2024
Department of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Biallelic pathogenic variants in CCN6 cause progressive pseudorheumatoid dysplasia (PPD), a rare skeletal dysplasia. The predominant features include noninflammatory progressive joint stiffness and enlargement, which are not unique to this condition. Nearly 100% of the reported variants are single nucleotide variants or small indels, and missing of a second variant has been reported.
View Article and Find Full Text PDFNoninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage.
Prenat Diagn
August 2024
Department of Fetal Medicine & Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine, Shanghai Institute of Maternal-Fetal Medicine and Gynecologic Oncology, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.
Objective: To establish a haplotype-based noninvasive prenatal testing (NIPT) workflow for single-gene recessive disorders that adapt to dizygotic (DZ) twin pregnancies.
Method: Twin pregnancies at risk of Duchenne muscular dystrophy, Becker muscular dystrophy, hemophilia B, spinal muscular atrophy, phenylketonuria, and nonsyndromic hearing loss were recruited. For subsequent analysis, capture sequencing targeting highly heterozygotic single nucleotide polymorphism sites was conducted.
Sodium taurocholate cotransporter polypeptide deficiency from two pairs of twins with homozygous and heterozygous of p.Ser267Phe variant, respectively: Case report.
Clin Res Hepatol Gastroenterol
March 2024
Department of Pathology, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University; Yunnan Province Clinical Research Center for Children's Health and Disease, Kunming 650228, People's Republic of China.. Electronic address:
Long-Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease.
Mov Disord
December 2023
Department of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
Article Synopsis
- Mutations in the PRKN gene are the leading cause of young onset Parkinson's disease and are found in a genetically fragile region, suggesting potential undiscovered complex structural variants.* -
- The study utilized various genetic sequencing methods, including long-read sequencing, to investigate twins with early-onset dystonia-parkinsonism, uncovering a significant 7 Mb inversion in the PRKN gene.* -
- Findings from the UK-Biobank and AMP-PD datasets identified several potentially harmful inversions, demonstrating the effectiveness of long-read sequencing in discovering complex genetic variants linked to Parkinson's disease.*
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