Cargando…

Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women

SUMMARY: We performed an association study of five candidate genes within chromosome 3p14-25 in 1,080 Chinese female subjects. Polymorphisms in FLNB/CRTAP are associated with bone mineral density (BMD) in Chinese. INTRODUCTION: Chromosomal region 3p14-25 has shown strong evidence of linkage to BMD i...

Descripción completa

Detalles Bibliográficos
Autores principales:	Li, G. H. Y., Kung, A. W. C., Huang, Q.-Y.
Formato:	Texto
Lenguaje:	English
Publicado:	Springer-Verlag 2009
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2946578/ https://www.ncbi.nlm.nih.gov/pubmed/19727905 http://dx.doi.org/10.1007/s00198-009-1043-6

Ejemplares similares

Generalized Connective Tissue Disease in Crtap-/- Mouse
por: Baldridge, Dustin, et al.
Publicado: (2010)

Tendon and motor phenotypes in the Crtap(-/-) mouse model of recessive osteogenesis imperfecta
por: Grol, Matthew William, et al.
Publicado: (2021)

Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis Imperfecta
por: Tang, Yen-An, et al.
Publicado: (2020)

Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis
por: Jiang, Heng, et al.
Publicado: (2020)

Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report
por: Yasin, Samina, et al.
Publicado: (2021)

An alternative splicing switch in FLNB promotes the mesenchymal cell state in human breast cancer
por: Li, Ji, et al.
Publicado: (2018)

Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome
por: Fukushima, Kaya, et al.
Publicado: (2021)

Common variants in MAEA gene contributed the susceptibility to osteoporosis in Han Chinese postmenopausal women
por: Cai, Xuan, et al.
Publicado: (2021)

ARHGEF3 Associated with Invasion, Metastasis, and Proliferation in Human Osteosarcoma
por: Gong, Jie, et al.
Publicado: (2021)

Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree
por: Hickey, Scott E., et al.
Publicado: (2019)

SNP in human ARHGEF3 promoter is associated with DNase hypersensitivity, transcript level and platelet function, and Arhgef3 KO mice have increased mean platelet volume
por: Zou, Siying, et al.
Publicado: (2017)

A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family
por: Shahid, Hamna, et al.
Publicado: (2023)

Role of ARHGEF3 as a GEF and mTORC2 Regulator
por: Khaliq, Sana Abdul, et al.
Publicado: (2022)

ARHGEF3 regulates the stability of ACLY to promote the proliferation of lung cancer
por: Zhou, Feifei, et al.
Publicado: (2022)

ARHGEF3 Regulates Skeletal Muscle Regeneration and Strength through Autophagy
por: You, Jae-Sung, et al.
Publicado: (2021)

Genetic variants in RET, ARHGEF3 and CTNNAL1, and relevant interaction networks, contribute to the risk of Hirschsprung disease
por: Wang, Yang, et al.
Publicado: (2020)

The putative tumor activator ARHGEF3 promotes nasopharyngeal carcinoma cell pathogenesis by inhibiting cellular apoptosis
por: Liu, Tian-Hao, et al.
Publicado: (2016)

Conditional testing of multiple variants associated with bone mineral density in the FLNB gene region suggests that they represent a single association signal
por: Mullin, Benjamin H, et al.
Publicado: (2013)

Clinical Validation of a Serum Protein Panel (FLNA, FLNB and KRT19) for Diagnosis of Prostate Cancer
por: Ravipaty, Shobha, et al.
Publicado: (2017)

Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion
por: Quiggle, Ashley, et al.
Publicado: (2022)

Influence of ARHGEF3 and RHOA Knockdown on ACTA2 and Other Genes in Osteoblasts and Osteoclasts
por: Mullin, Benjamin H., et al.
Publicado: (2014)

Common genetic variants in pre-microRNAs are associated with cervical cancer susceptibility in southern Chinese women
por: Chen, Guange, et al.
Publicado: (2020)

Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing
por: Jeon, Ga Won, et al.
Publicado: (2014)

Association between a Single Nucleotide Polymorphism in the 3′-UTR of ARHGEF18 and the Risk of Nonidiopathic Pulmonary Arterial Hypertension in Chinese Population
por: Li, Ding, et al.
Publicado: (2018)

Impairment of social behaviors in Arhgef10 knockout mice
por: Lu, Dai-Hua, et al.
Publicado: (2018)

ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration
por: Yang, Haiyan, et al.
Publicado: (2022)

Evaluation of common variants in the CNR2 gene and its interaction with abdominal obesity for osteoporosis susceptibility in Chinese post-menopausal females
por: Zheng, W., et al.
Publicado: (2019)

ARHGEF4-mediates the actin cytoskeleton reorganization of hepatic stellate cells in 3-dimensional collagen matrices
por: Zhang, Xiaowei, et al.
Publicado: (2019)

circRNAome Profiling in Oral Carcinoma Unveils a Novel circFLNB that Mediates Tumour Growth-Regulating Transcriptional Response
por: Chen, Yi-Tung, et al.
Publicado: (2020)

ARHGEF17 sets the timer for retention of Mps1 at kinetochores
por: Marquardt, Joseph R., et al.
Publicado: (2016)

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation
por: Alber, Michael, et al.
Publicado: (2017)

ARHGEF26 enhances Salmonella invasion and inflammation in cells and mice
por: Bourgeois, Jeffrey S., et al.
Publicado: (2021)

Peptide ARHGEF9 Inhibits Glioma Progression via PI3K/AKT/mTOR Pathway
por: Huang, Jie, et al.
Publicado: (2023)

The Rho guanine nucleotide exchange factor ARHGEF5 promotes tumor malignancy via epithelial–mesenchymal transition
por: Komiya, Y, et al.
Publicado: (2016)

Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB‐related skeletal disorders in three fetuses and a 106‐year‐old exhibit
por: Rehder, Helga, et al.
Publicado: (2018)

Heterogeneity of Breast Cancer Associations with Common Genetic Variants in FGFR2 according to the Intrinsic Subtypes in Southern Han Chinese Women
por: Liang, Huiying, et al.
Publicado: (2015)

IDUA Gene Variants and Response to Zoledronic Acid Treatment in Chinese Women with Postmenopausal Osteoporosis
por: Lin, Haiqing, et al.
Publicado: (2021)

ARHGEF11, a regulator of junction-associated actomyosin in epithelial cells
por: Itoh, Masahiko
Publicado: (2013)

Arhgef1 Plays a Vital Role in Platelet Function and Thrombogenesis
por: Qasim, Hanan, et al.
Publicado: (2019)

ARHGEF38 as a novel biomarker to predict aggressive prostate cancer
por: Liu, Kun, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_17alhtd1mdoasd9mqsm1apnh75