Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population
Published 2021 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population
Authors
Keywords
-
Journal
Frontiers in Immunology
Volume 12, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2021-09-25
DOI
10.3389/fimmu.2021.695993
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification
- (2020) Aziz Bousfiha et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Human occupation of northern India spans the Toba super-eruption ~74,000 years ago
- (2020) Chris Clarkson et al. Nature Communications
- LIG4 syndrome: clinical and molecular characterization in a Chinese cohort
- (2020) Bijun Sun et al. Orphanet Journal of Rare Diseases
- Establishing Simultaneous T Cell Receptor Excision Circles (TREC) and K-Deleting Recombination Excision Circles (KREC) Quantification Assays and Laboratory Reference Intervals in Healthy Individuals of Different Age Groups in Hong Kong
- (2020) Janette S. Y. Kwok et al. Frontiers in Immunology
- A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet’s Disease
- (2019) Ekim Z. Taskiran et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature
- (2019) Aidé Tamara Staines Boone et al. Frontiers in Pediatrics
- The formation of human populations in South and Central Asia
- (2019) Vagheesh M. Narasimhan et al. SCIENCE
- Allogeneic hematopoietic stem cell transplantation in two brothers with DNA ligase IV deficiency: a case report and review of the literature
- (2019) Sarah Schober et al. BMC Pediatrics
- Reference values for peripheral blood lymphocyte subsets of healthy children in China
- (2018) Yuan Ding et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Structures of DNA-bound human ligase IV catalytic core reveal insights into substrate binding and catalysis
- (2018) Andrea M. Kaminski et al. Nature Communications
- The success of failed Homo sapiens dispersals out of Africa and into Asia
- (2018) Ryan J. Rabett Nature Ecology & Evolution
- Recent advances in the study of immunodeficiency and DNA damage response
- (2017) Tomohiro Morio INTERNATIONAL JOURNAL OF HEMATOLOGY
- Tracing the peopling of the world through genomics
- (2017) Rasmus Nielsen et al. NATURE
- BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile
- (2017) Carolina Alvarez et al. Oncotarget
- Molecular and immunological characterization of DNA ligase IV deficiency
- (2016) Jinqiu Jiang et al. CLINICAL IMMUNOLOGY
- Genome-Wide Identification of Regulatory Sequences Undergoing Accelerated Evolution in the Human Genome
- (2016) Xinran Dong et al. MOLECULAR BIOLOGY AND EVOLUTION
- DNA ligase IV syndrome; a review
- (2016) Thomas Altmann et al. Orphanet Journal of Rare Diseases
- Small Amounts of Archaic Admixture Provide Big Insights into Human History
- (2015) Selina Vattathil et al. CELL
- Genetic Diversity and Societally Important Disparities
- (2015) N. A. Rosenberg et al. GENETICS
- T-cell receptor diversity is selectively skewed in T-cell populations of patients with Wiskott-Aldrich syndrome
- (2015) Junfeng Wu et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- A recurrentF8mutation (c.6046C>T) causing hemophilia A in 8% of northern Italian patients: evidence for a founder effect
- (2015) Isabella Garagiola et al. Molecular Genetics & Genomic Medicine
- Simultaneous Quantification of T-Cell Receptor Excision Circles (TRECs) and K-Deleting Recombination Excision Circles (KRECs) by Real-time PCR
- (2014) Alessandra Sottini et al. Jove-Journal of Visualized Experiments
- Clinical Spectrum of LIG4 Deficiency Is Broadened with Severe Dysmaturity, Primordial Dwarfism, and Neurological Abnormalities
- (2013) Hanna IJspeert et al. HUMAN MUTATION
- Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
- (2013) Jennie E. Murray et al. HUMAN MUTATION
- Identification of the DNA Repair Defects in a Case of Dubowitz Syndrome
- (2013) Jingyin Yue et al. PLoS One
- Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome
- (2010) F. Rucci et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A novel mutation in a family with DNA ligase IV deficiency syndrome
- (2009) Sule Unal et al. PEDIATRIC BLOOD & CANCER
- Omenn syndrome is associated with mutations in DNA ligase IV
- (2008) Eyal Grunebaum et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Linkage disequilibrium — understanding the evolutionary past and mapping the medical future
- (2008) Montgomery Slatkin NATURE REVIEWS GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started