Associated Papers
Genetic analysis of a Chinese family with non-syndromic tooth agenesis may reveal a potential multi-locus etiology.
Wu Y et al.
Gene, 2026
PITX2 expression and Neanderthal introgression in HS3ST3A1 contribute to variation in tooth dimensions in modern humans.
Li Q et al.
Current Biology : Cb, 2025
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
Critical Considerations in Calling Disease-Causing EDAR Mutations in Nonsyndromic Oligodontia.
Kim YJ et al.
Journal of Clinical Medicine, 2024
The FTO variant conferring enhanced UCP1 expression is linked to human migration out of Africa.
Yin N et al.
Life Metabolism, 2024
Genomic imputation of ancient Asian populations contrasts local adaptation in pre- and post-agricultural Japan.
Cooke NP et al.
Iscience, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Activation of wnt/β-catenin signaling pathway down regulated osteogenic differentiation of bone marrow-derived stem cells in an anhidrotic ectodermal dysplasia patient with EDA/EDAR/EDARADD mutation.
Bao DY et al.
Heliyon, 2024
Molecular basis and genetics of hypohidrotic ectodermal dysplasias.
Kovalskaia VA et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2023
EDA ligand triggers plasma membrane trafficking of its receptor EDAR via PKA activation and SNAP23-containing complexes.
Yao Y et al.
Cell & Bioscience, 2023
Genetic/Protein Association of Atopic Dermatitis and Tooth Agenesis.
Ouyang W et al.
International Journal of Molecular Sciences, 2023
Additional predictions for forensic DNA phenotyping of externally visible characteristics using the ForenSeq and Imagen kits.
Elkins KM et al.
Journal of Forensic Sciences, 2023
Dental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A Deficiency.
García-Martínez VE et al.
Children (basel, Switzerland), 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Novel LRP6 Mutations Causing Non-Syndromic Oligodontia.
Lee Y et al.
Journal of Personalized Medicine, 2022
A Late Pleistocene human genome from Southwest China.
Zhang X et al.
Current Biology : Cb, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Genomic diversity and post-admixture adaptation in the Uyghurs.
Pan Y et al.
National Science Review, 2022
PopHumanVar: an interactive application for the functional characterization and prioritization of adaptive genomic variants in humans.
Colomer-Vilaplana A et al.
Nucleic Acids Research, 2022
SweepCluster: A SNP clustering tool for detecting gene-specific sweeps in prokaryotes.
Qiu J et al.
Bmc Bioinformatics, 2022
Prioritising positively selected variants in whole-genome sequencing data using FineMAV.
Wahyudi F et al.
Bmc Bioinformatics, 2021
Insights into human history from the first decade of ancient human genomics.
Liu Y et al.
Science (new York, N.y.), 2021
The deep population history of northern East Asia from the Late Pleistocene to the Holocene.
Mao X et al.
Cell, 2021
A novel EDAR missense mutation identified by whole-exome sequencing with non-syndromic tooth agenesis in a Chinese family.
Zhang H et al.
Molecular Genetics & Genomic Medicine, 2021
The human EDAR 370V/A polymorphism affects tooth root morphology potentially through the modification of a reaction-diffusion system.
Kataoka K et al.
Scientific Reports, 2021
No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia.
Körber L et al.
Orphanet Journal of Rare Diseases, 2021
A linkage disequilibrium-based statistical test for Genome-Wide Epistatic Selection Scans in structured populations.
Boyrie L et al.
Heredity, 2021
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
Characterisation of a second gain of function EDAR variant, encoding EDAR380R, in East Asia.
Riddell J et al.
European Journal of Human Genetics : Ejhg, 2020
Comparative analysis of rare EDAR mutations and tooth agenesis pattern in EDAR- and EDA-associated nonsyndromic oligodontia.
Zhang L et al.
Human Mutation, 2020
Trans-acting non-synonymous variant of FOXA1 predisposes to hepatocellular carcinoma through modulating FOXA1-ERα transcriptional program and may have undergone natural selection.
Wang S et al.
Carcinogenesis, 2020
Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study.
Wohlfart S et al.
Orphanet Journal of Rare Diseases, 2020
Dating genomic variants and shared ancestry in population-scale sequencing data.
Albers PK et al.
Plos Biology, 2020
How well do we understand the basis of classic selective sweeps in humans?
Szpak M et al.
Febs Letters, 2019
EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population.
Li Y et al.
Human Genetics, 2019
A novel splicing mutation of ectodysplasin A gene responsible for hypohidrotic ectodermal dysplasia.
Liu G et al.
Oral Diseases, 2018
Geographic Variation in EGFR Mutation Frequency in Lung Adenocarcinoma May Be Explained by Interethnic Genetic Variation.
Soraas L et al.
Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2018
Evolutionary significance of selected EDAR variants in Tibetan high-altitude adaptations.
Shao J et al.
Science China. Life Sciences, 2018
Divergent genetic mechanism leads to spiny hair in rodents.
Gonçalves GL et al.
Plos One, 2018
Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment.
Shaffer JR et al.
American Journal of Human Genetics, 2017
Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia.
Monroy-Jaramillo N et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017
Neanderthal and Denisova tooth protein variants in present-day humans.
Zanolli C et al.
Plos One, 2017
The fine-scale genetic structure and evolution of the Japanese population.
Takeuchi F et al.
Plos One, 2017
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.
Wohlfart S et al.
Journal of Human Genetics, 2016
Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.
Zeng B et al.
Genes, 2016
Detection and interpretation of shared genetic influences on 42 human traits.
Pickrell JK et al.
Nature Genetics, 2016