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List of works by Jacqueline T. Hecht

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

scientific article

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

scientific article published on 17 September 2009

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

scientific article

Antisense Reduction of Mutant COMP Reduces Growth Plate Chondrocyte Pathology

scientific article published on 3 February 2017

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

scientific article

COMP mutations, chondrocyte function and cartilage matrix

scientific article

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

scientific article published on 01 February 2008

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

scientific article

CRISPLD2: a novel NSCLP candidate gene

scientific article

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

scientific article

Cartilage oligomeric matrix protein: COMPopathies and beyond

scientific article published on 9 March 2018

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

scientific article

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

scientific article published on December 7, 2011

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

scientific article published on 4 September 2007

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

scientific article (publication date: May 2005)

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

scientific article published on December 7, 2011

Essential hypertension vs. secondary hypertension among children

scientific article

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

scientific article

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

scientific article

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

scientific article

Folate pathway and nonsyndromic cleft lip and palate

scientific article

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

scientific article

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

scientific article

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

scientific article

Heparan sulfate proteoglycans: key players in cartilage biology.

scientific article

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

scientific article

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

scientific article

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

scientific article published on 7 October 2005

Interaction of cartilage oligomeric matrix protein/thrombospondin 5 with aggrecan

scientific article

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

scientific article published on December 25, 2012

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

scientific article

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

scientific article published on 5 January 2018

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

scientific article

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

scientific article published on September 1, 2009

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

scientific article

Mutations in ECEL1 cause distal arthrogryposis type 5D

scientific article

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

scientific article

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

scientific article published on November 15, 2010

Novel mTORC1 Mechanism Suggests Therapeutic Targets for COMPopathies

scientific article published on 01 January 2019

Novel therapeutic interventions for pseudoachondroplasia

scientific article published on 21 March 2017

Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments

scientific article (publication date: 2001)

Pseudoachondroplasia/COMP - translating from the bench to the bedside

scientific article

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

scientific article

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

scientific article

Role of TSP-5/COMP in pseudoachondroplasia

scientific article published on June 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 ⬇️

scientific article published on December 1, 2010

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

scientific article

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

scientific article published on January 2007

Variation in IRF6 contributes to nonsyndromic cleft lip and palate

scientific article

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

scientific article

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