Lista de obras -

A GDF5 point mutation strikes twice--causing BDA1 and SYNS2

artículo científico publicado en 2013

An inducible cartilage oligomeric matrix protein mouse model recapitulates human pseudoachondroplasia phenotype

artículo científico publicado en 2009

Antioxidant and anti-inflammatory agents mitigate pathology in a mouse model of pseudoachondroplasia

artículo científico publicado en 2015

Antisense Reduction of Mutant COMP Reduces Growth Plate Chondrocyte Pathology

artículo científico publicado en 2017

Association of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts.

artículo científico publicado en 2012

COMP mutations, chondrocyte function and cartilage matrix

artículo científico publicado en 2004

COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes

artículo científico publicado en 2008

CRISPLD2 variants including a C471T silent mutation may contribute to nonsyndromic cleft lip with or without cleft palate.

artículo científico publicado en 2010

CRISPLD2: a novel NSCLP candidate gene

artículo científico publicado en 2007

Cartilage oligomeric matrix protein/thrombospondin 5 supports chondrocyte attachment through interaction with integrins

artículo científico publicado en 2005

Cartilage oligomeric matrix protein: COMPopathies and beyond

artículo científico publicado en 2018

Chondrocyte-specific pathology during skeletal growth and therapeutics in a murine model of pseudoachondroplasia

artículo científico publicado en 2014

Chop (Ddit3) Is Essential for D469del-COMP Retention and Cell Death in Chondrocytes in an Inducible Transgenic Mouse Model of Pseudoachondroplasia ⬇️

artículo científico publicado el 7 de diciembre de 2011

Computational identification and functional validation of regulatory motifs in cartilage-expressed genes.

artículo científico publicado en 2007

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome

artículo científico publicado en 2005

D469del-COMP Retention in Chondrocytes Stimulates Caspase-Independent Necroptosis ⬇️

artículo científico publicado el 7 de diciembre de 2011

Essential hypertension vs. secondary hypertension among children

artículo científico publicado en 2014

Ethnic heterogeneity of IRF6 AP-2a binding site promoter SNP association with nonsyndromic cleft lip and palate

artículo científico publicado en 2010

FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish

artículo científico publicado en 2011

Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate

artículo científico publicado en 2010

Folate pathway and nonsyndromic cleft lip and palate

artículo científico publicado en 2010

Further evidence suggesting a role for variation in ARHGAP29 variants in nonsyndromic cleft lip/palate.

artículo científico publicado en 2014

Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology

artículo científico publicado en 2016

Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate

artículo científico publicado en 2009

Heparan sulfate proteoglycans: key players in cartilage biology.

artículo científico publicado en 2005

Identification of a 3Kbp mechanoresponsive promoter region in the human cartilage oligomeric matrix protein gene.

artículo científico publicado en 2012

Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci

artículo científico publicado en 2015

In vivo human Cartilage oligomeric matrix protein (COMP) promoter activity

artículo científico publicado en 2005

Interaction of cartilage oligomeric matrix protein/thrombospondin 5 with aggrecan

artículo científico publicado en 2007

Loss of β-Catenin Induces Multifocal Periosteal Chondroma-Like Masses in Mice ⬇️

artículo científico publicado el 25 de diciembre de 2012

Mortality in achondroplasia study: a 42-year follow-up

artículo científico publicado en 2007

Mutant cartilage oligomeric matrix cartilage (COMP) compromises bone integrity, joint function and the balance between adipogenesis and osteogenesis.

artículo científico publicado en 2018

Mutation analysis of the PVRL1 gene in caucasians with nonsyndromic cleft lip/palate

artículo científico publicado en 2009

Mutation and association analysis of the PVR and PVRL2 genes in patients with non-syndromic cleft lip and palate ⬇️

artículo científico publicado el 1 de septiembre de 2009

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

artículo científico publicado en 2014

Mutations in ECEL1 cause distal arthrogryposis type 5D

artículo científico publicado en 2012

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

artículo científico publicado en 2014

Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection ⬇️

artículo científico publicado el 15 de noviembre de 2010

Novel mTORC1 Mechanism Suggests Therapeutic Targets for COMPopathies

artículo científico publicado en 2019

Novel therapeutic interventions for pseudoachondroplasia

artículo científico publicado en 2017

Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments

artículo científico publicado en 2001

Pseudoachondroplasia/COMP - translating from the bench to the bedside

artículo científico publicado en 2014

RNAi reduces expression and intracellular retention of mutant cartilage oligomeric matrix protein

artículo científico publicado en 2010

Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American family

artículo científico publicado en 2015

Role of TSP-5/COMP in pseudoachondroplasia

artículo científico publicado en 2004

Skeletal abnormalities in mice lacking extracellular matrix proteins, thrombospondin-1, thrombospondin-3, thrombospondin-5, and type IX collagen

scientific journal article

Smoking, the xenobiotic pathway, and clubfoot ⬇️

artículo científico publicado el 1 de diciembre de 2010

The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis

artículo científico publicado en 2014

Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes

artículo científico publicado en 2007

Variation in IRF6 contributes to nonsyndromic cleft lip and palate

artículo científico publicado en 2005

Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate

artículo científico publicado en 2008

Lista de obras de

A GDF5 point mutation strikes twice--causing BDA1 and SYNS2

An inducible cartilage oligomeric matrix protein mouse model recapitulates human pseudoachondroplasia phenotype

Antioxidant and anti-inflammatory agents mitigate pathology in a mouse model of pseudoachondroplasia

Antisense Reduction of Mutant COMP Reduces Growth Plate Chondrocyte Pathology

Association of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts.

COMP mutations, chondrocyte function and cartilage matrix

COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes

CRISPLD2 variants including a C471T silent mutation may contribute to nonsyndromic cleft lip with or without cleft palate.

CRISPLD2: a novel NSCLP candidate gene

Cartilage oligomeric matrix protein/thrombospondin 5 supports chondrocyte attachment through interaction with integrins

Cartilage oligomeric matrix protein: COMPopathies and beyond

Chondrocyte-specific pathology during skeletal growth and therapeutics in a murine model of pseudoachondroplasia

Chop (Ddit3) Is Essential for D469del-COMP Retention and Cell Death in Chondrocytes in an Inducible Transgenic Mouse Model of Pseudoachondroplasia ⬇️

Computational identification and functional validation of regulatory motifs in cartilage-expressed genes.

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome

D469del-COMP Retention in Chondrocytes Stimulates Caspase-Independent Necroptosis ⬇️

Essential hypertension vs. secondary hypertension among children

Ethnic heterogeneity of IRF6 AP-2a binding site promoter SNP association with nonsyndromic cleft lip and palate

FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish

Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate

Folate pathway and nonsyndromic cleft lip and palate

Further evidence suggesting a role for variation in ARHGAP29 variants in nonsyndromic cleft lip/palate.

Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology

Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate

Heparan sulfate proteoglycans: key players in cartilage biology.

Identification of a 3Kbp mechanoresponsive promoter region in the human cartilage oligomeric matrix protein gene.

Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci

In vivo human Cartilage oligomeric matrix protein (COMP) promoter activity

Interaction of cartilage oligomeric matrix protein/thrombospondin 5 with aggrecan

Loss of β-Catenin Induces Multifocal Periosteal Chondroma-Like Masses in Mice ⬇️

Mortality in achondroplasia study: a 42-year follow-up

Mutant cartilage oligomeric matrix cartilage (COMP) compromises bone integrity, joint function and the balance between adipogenesis and osteogenesis.

Mutation analysis of the PVRL1 gene in caucasians with nonsyndromic cleft lip/palate

Mutation and association analysis of the PVR and PVRL2 genes in patients with non-syndromic cleft lip and palate ⬇️

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

Mutations in ECEL1 cause distal arthrogryposis type 5D

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection ⬇️

Novel mTORC1 Mechanism Suggests Therapeutic Targets for COMPopathies

Novel therapeutic interventions for pseudoachondroplasia

Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments

Pseudoachondroplasia/COMP - translating from the bench to the bedside

RNAi reduces expression and intracellular retention of mutant cartilage oligomeric matrix protein

Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American family

Role of TSP-5/COMP in pseudoachondroplasia

Skeletal abnormalities in mice lacking extracellular matrix proteins, thrombospondin-1, thrombospondin-3, thrombospondin-5, and type IX collagen

Smoking, the xenobiotic pathway, and clubfoot ⬇️

The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis

Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes

Variation in IRF6 contributes to nonsyndromic cleft lip and palate

Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate