| [IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA]. | [IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA].
Hadid Y, Daher Z, Mahroum M, Shalata A, Nakhleh Francis Y, Shalata H, Broneshter Vinter R, Ziv M, Furman C, Ali V, Levitaz J, Shalata A. | 07/6/2023 |
| Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome. | Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome.
Kantaputra P, Guven Y, Kalayci T, Özer PK, Panyarak W, Intachai W, Olsen B, Carlson BM, Praditsap O, Tongsima S, Ngamphiw C, Jatooratthawichot P, Tucker AS, Ketudat Cairns JR. | 06/18/2022 |
| Latent TGFbeta-binding proteins regulate UCP1 expression and function via TGFbeta2. | Latent TGFβ-binding proteins regulate UCP1 expression and function via TGFβ2.
Halbgebauer D, Roos J, Funcke JB, Neubauer H, Hamilton BS, Simon E, Amri EZ, Debatin KM, Wabitsch M, Fischer-Posovszky P, Tews D., Free PMC Article | 03/26/2022 |
| Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections. | Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections.
Zhu G, Luo M, Chen Q, Zhang Y, Zhao K, Zhang Y, Shu C, Yang H, Zhou Z., Free PMC Article | 03/19/2022 |
| Bi-allelic loss-of-function novel variants in LTBP3-related skeletal dysplasia: Report of first patient from India. | Bi-allelic loss-of-function novel variants in LTBP3-related skeletal dysplasia: Report of first patient from India.
Kaur R, Siddiqui I, Mathur V, Jana M, Kabra M, Gupta N. | 06/5/2021 |
| Common variants in LTBP3 gene contributed to the risk of hip osteoarthritis in Han Chinese population. | Common variants in LTBP3 gene contributed to the risk of hip osteoarthritis in Han Chinese population.
Zhao T, Zhao J, Ma C, Wei J, Wei B, Liu J., Free PMC Article | 03/27/2021 |
| Data indicate that latent transforming growth factor beta binding protein 3 (LTBP3) is a disease gene for acromicric dysplasia (ACMICD) and suggest the genotype-phenotype correlation of LTBP3 mutations. | Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders.
Intarak N, Theerapanon T, Thaweesapphithak S, Suphapeetiporn K, Porntaveetus T, Shotelersuk V. | 06/8/2019 |
| A specific role for LTBP3 in cancer progression toward metastatic disease. | LTBP3 promotes early metastatic events during cancer cell dissemination.
Deryugina EI, Zajac E, Zilberberg L, Muramatsu T, Joshi G, Dabovic B, Rifkin D, Quigley JP., Free PMC Article | 03/9/2019 |
| homozygous LTBP3 pathogenic variants predispose individuals to thoracic aortic aneurysms and dissections, along with the previously described skeletal and dental abnormalities. | LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.
Guo DC, Regalado ES, Pinard A, Chen J, Lee K, Rigelsky C, Zilberberg L, Hostetler EM, Aldred M, Wallace SE, Prakash SK, University of Washington Center for Mendelian Genomics, Leal SM, Bamshad MJ, Nickerson DA, Natowicz M, Rifkin DB, Milewicz DM., Free PMC Article | 12/22/2018 |
| LTBP3 is a novel component of the microfibrillar network involved in the acromelic dysplasia spectrum. | Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
McInerney-Leo AM, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V. | 11/4/2017 |
| New recessive truncating mutation in LTBP3 has been described in a family with oligodontia, short stature, and mitral valve prolapse. | New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.
Dugan SL, Temme RT, Olson RA, Mikhailov A, Law R, Mahmood H, Noor A, Vincent JB. | 02/20/2016 |
| Phenotype-genotype correlations between LTBP3 mutations and families with brachyolmia with amelogenesis imperfecta. | Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
Huckert M, Stoetzel C, Morkmued S, Laugel-Haushalter V, Geoffroy V, Muller J, Clauss F, Prasad MK, Obry F, Raymond JL, Switala M, Alembik Y, Soskin S, Mathieu E, Hemmerlé J, Weickert JL, Dabovic BB, Rifkin DB, Dheedene A, Boudin E, Caluseriu O, Cholette MC, Mcleod R, Antequera R, Gellé MP, Coeuriot JL, Jacquelin LF, Bailleul-Forestier I, Manière MC, Van Hul W, Bertola D, Dollé P, Verloes A, Mortier G, Dollfus H, Bloch-Zupan A., Free PMC Article | 02/20/2016 |
| the mechanism of transcriptional activation of LTBP3 promoter depends on MALAT1 initiated from neighboring gene LTBP3 and involves both the direct interaction of the Sp1 and promoter-specific activation | Activation of LTBP3 gene by a long noncoding RNA (lncRNA) MALAT1 transcript in mesenchymal stem cells from multiple myeloma.
Li B, Chen P, Qu J, Shi L, Zhuang W, Fu J, Li J, Zhang X, Sun Y, Zhuang W., Free PMC Article | 12/27/2014 |
| Latent transforming growth factor beta-binding proteins-2 and -3 inhibit the proprotein convertase 5/6A. | Latent transforming growth factor beta-binding proteins-2 and -3 inhibit the proprotein convertase 5/6A.
Sun X, Essalmani R, Susan-Resiga D, Prat A, Seidah NG., Free PMC Article | 10/22/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesInterferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection.
Nalpas B, Lavialle-Meziani R, Plancoulaine S, Jouanguy E, Nalpas A, Munteanu M, Charlotte F, Ranque B, Patin E, Heath S, Fontaine H, Vallet-Pichard A, Pontoire D, Bourlière M, Casanova JL, Lathrop M, Bréchot C, Poynard T, Matsuda F, Pol S, Abel L. Assessment of the association between genetic polymorphisms in transforming growth factor beta, and its binding protein (LTBP), and the presence, and expansion, of Abdominal Aortic Aneurysm.
Thompson AR, Cooper JA, Jones GT, Drenos F, van Bockxmeer FM, Biros E, Walker PJ, van Rij AM, Golledge J, Norman PE, Hafez H, Humphries SE. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
Yerges LM, Klei L, Cauley JA, Roeder K, Kammerer CM, Moffett SP, Ensrud KE, Nestlerode CS, Marshall LM, Hoffman AR, Lewis C, Lang TF, Barrett-Connor E, Ferrell RE, Orwoll ES, Zmuda JM, MrOS Research Group. | 06/24/2009 |
| homozygous nonsense mutation, Y774X, in a consanguineous Pakistani family where oligodontia is inherited along with short stature in an autosomal-recessive fashion | Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.
Noor A, Windpassinger C, Vitcu I, Orlic M, Rafiq MA, Khalid M, Malik MN, Ayub M, Alman B, Vincent JB., Free PMC Article | 01/21/2010 |
| Data show that LTBP-3 play an important regulatory role in TGF-beta activation and autocrine growth control in mesenchymal stem cells. | Latent TGF-beta binding proteins (LTBPs)-1 and -3 coordinate proliferation and osteogenic differentiation of human mesenchymal stem cells.
Koli K, Ryynänen MJ, Keski-Oja J. | 01/21/2010 |
| Extracellular matrix is an important site of deposition for LTBP-3 and LTBP-4. | Sequential deposition of latent TGF-beta binding proteins (LTBPs) during formation of the extracellular matrix in human lung fibroblasts.
Koli K, Hyytiäinen M, Ryynänen MJ, Keski-Oja J. | 01/21/2010 |
| These findings indicate that human latent TGF-beta-binding protein-3 (LTBP-3) has an essential role in the secretion and targeting of transforming growth factor-beta1 (TGF-beta1). | Secretion of human latent TGF-beta-binding protein-3 (LTBP-3) is dependent on co-expression of TGF-beta.
Penttinen C, Saharinen J, Weikkolainen K, Hyytiäinen M, Keski-Oja J. | 01/21/2010 |
| stimulation of transcriptional activity of promoter is stimulated by TGF-beta 1 | Induction of human LTBP-3 promoter activity by TGF-beta1 is mediated by Smad3/4 and AP-1 binding elements.
Kantola AK, Keski-Oja J, Koli K. | 01/21/2010 |