Associated Papers
Integration of genetic fine-mapping and multi-omics data reveals candidate effector genes for hypertension.
van Duijvenboden S et al.
American Journal of Human Genetics, 2023
Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families.
El-Kamah GY et al.
Genes, 2023
Novel Disease-Associated Missense Single-Nucleotide Polymorphisms Variants Predication by Algorithms Tools and Molecular Dynamics Simulation of Human TCIRG1 Gene Causing Congenital Neutropenia and Osteopetrosis.
Shinwari K et al.
Frontiers in Molecular Biosciences, 2022
Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.
Qin W et al.
Human Molecular Genetics, 2021
33835157 (PubMed )
Supplement: supplementary_tables_ddab090.xlsx › Supplementary_Table_1
TCIRG1 and SNX10 gene mutations in the patients with autosomal recessive osteopetrosis.
Koçak G et al.
Gene, 2019
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S6.xlsx › results
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-AN-A0FW-01A.domain
Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis.
Bonapace G et al.
Italian Journal of Pediatrics, 2014
CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.
Barvencik F et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2014
Genome-wide survey of interindividual differences of RNA stability in human lymphoblastoid cell lines.
Duan J et al.
Scientific Reports, 2013
23422947 (PubMed )
Supplement: srep01318-s2.xls › S7
Impaired gastric acidification negatively affects calcium homeostasis and bone mass.
Schinke T et al.
Nature Medicine, 2009
Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women.
Sobacchi C et al.
Calcified Tissue International, 2004
Sibling pair linkage and association studies between peak bone mineral density and the gene locus for the osteoclast-specific subunit (OC116) of the vacuolar proton pump on chromosome 11p12-13.
Carn G et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
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