Search Results - "Hecht, Jacqueline"

Cartilage oligomeric matrix protein: COMPopathies and beyond by Posey, Karen L., Coustry, Francoise, Hecht, Jacqueline T.

“…Cartilage oligomeric matrix protein (COMP) is a large pentameric glycoprotein that interacts with multiple extracellular matrix proteins in cartilage and other…”
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Achondroplasia by Horton, William A, Prof, Hall, Judith G, Prof, Hecht, Jacqueline T, Prof

“…Summary Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250 000 individuals worldwide. More than 95% of…”
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Health consequences of mutant cartilage oligomeric matrix protein and its relationship to abnormal growth and joint degeneration by Hecht, Jacqueline T., Chiu, Frankie, Veerisetty, Alka, Hossain, Mohammad, Posey, Karen L.

“…Cartilage oligomeric matrix protein (COMP), an extracellular matrix protein, has been shown to enhance proliferation and mechanical integrity in the matrix,…”
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Novel therapeutic interventions for pseudoachondroplasia by Posey, Karen L, Hecht, Jacqueline T

“…Abstract Pseudoachondroplasia (PSACH), a severe short-limbed dwarfing condition, is associated with life-long joint pain and early onset osteoarthritis. PSACH…”
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Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history by Hoover-Fong, Julie, Cheung, Moira S., Fano, Virginia, Hagenas, Lars, Hecht, Jacqueline T., Ireland, Penny, Irving, Melita, Mohnike, Klaus, Offiah, Amaka C., Okenfuss, Ericka, Ozono, Keiichi, Raggio, Cathleen, Tofts, Louise, Kelly, Dominique, Shediac, Renée, Pan, Wayne, Savarirayan, Ravi

“…Achondroplasia, the most common form of disproportionate short stature, is caused by a variant in the fibroblast growth factor receptor 3 (FGFR3) gene…”
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Essential Hypertension vs. Secondary Hypertension Among Children by Gupta-Malhotra, Monesha, Banker, Ashish, Shete, Sanjay, Hashmi, Syed Sharukh, Tyson, John E., Barratt, Michelle S., Hecht, Jacqueline T., Milewicz, Diane M., Boerwinkle, Eric

“…BACKGROUND The aim was to determine the proportions and correlates of essential hypertension among children in a tertiary pediatric hypertension clinic…”
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CurQ+, a Next-Generation Formulation of Curcumin, Ameliorates Growth Plate Chondrocyte Stress and Increases Limb Growth in a Mouse Model of Pseudoachondroplasia by Hecht, Jacqueline T, Veerisetty, Alka C, Hossain, Mohammad G, Chiu, Frankie, Posey, Karen L

“…Mutations in cartilage oligomeric matrix protein (COMP) causes protein misfolding and accumulation in chondrocytes that compromises skeletal growth and joint…”
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Individuals with nonsyndromic orofacial clefts have increased asymmetry of fingerprint patterns by Neiswanger, Katherine, Mukhopadhyay, Nandita, Rajagopalan, Shwetha, Leslie, Elizabeth J, Sanchez, Carla A, Hecht, Jacqueline T, Orioli, Iêda M, Poletta, Fernando A, de Salamanca, Javier Enríquez, Weinberg, Seth M, Marazita, Mary L

“…Dermatoglyphic patterns on the fingers often differ in syndromes and other conditions with a developmental component, compared to the general population…”
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Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers by Nahm, Nickolas J, Mackenzie, W G Stuart, Mackenzie, William G, Gough, Ethan, Hashmi, S Shahrukh, Hecht, Jacqueline T, Legare, Janet M, Little, Mary Ellen, Modaff, Peggy, Pauli, Richard M, Rodriguez-Buritica, David F, Serna, Maria Elena, Smid, Cory J, Hoover-Fong, Julie, Bober, Michael B

“…The purpose of this study was to describe the frequency and risk factors for orthopedic surgery in patients with achondroplasia. CLARITY (The Achondroplasia…”
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Mapping genetic variants for cranial vault shape in humans by Roosenboom, Jasmien, Lee, Myoung Keun, Hecht, Jacqueline T, Heike, Carrie L, Wehby, George L, Christensen, Kaare, Feingold, Eleanor, Marazita, Mary L, Maga, A Murat, Shaffer, John R, Weinberg, Seth M

“…The shape of the cranial vault, a region comprising interlocking flat bones surrounding the cerebral cortex, varies considerably in humans. Strongly influenced…”
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Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States by Hoover-Fong, Julie E., Alade, Adekemi Y., Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Little, Mary Ellen, Liu, Chengxin, McGready, John, Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Schulze, Kerry J., Serna, Maria Elena, Smid, Cory J., Bober, Michael B.

“…Achondroplasia is the most common short stature skeletal dysplasia (1:20,000–30,000), but the risk of adverse health outcomes from cardiovascular diseases,…”
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Primary Osteoarthritis Early Joint Degeneration Induced by Endoplasmic Reticulum Stress Is Mitigated by Resveratrol by Hecht, Jacqueline T., Veerisetty, Alka C., Wu, Juliana, Coustry, Francoise, Hossain, Mohammad G., Chiu, Frankie, Gannon, Francis H., Posey, Karen L.

“…Increasing numbers of people are living with osteoarthritis (OA) due to aging and obesity, creating an urgent need for effective treatment and preventions. Two…”
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Early Resveratrol Treatment Mitigates Joint Degeneration and Dampens Pain in a Mouse Model of Pseudoachondroplasia (PSACH) by Hecht, Jacqueline T, Veerisetty, Alka C, Patra, Debabrata, Hossain, Mohammad G, Chiu, Frankie, Mobed, Claire, Gannon, Francis H, Posey, Karen L

“…Pseudoachondroplasia (PSACH), a severe dwarfing condition associated with early-onset joint degeneration and lifelong joint pain, is caused by mutations in…”
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Deletions of 5' HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus by Alvarado, David M, McCall, Kevin, Hecht, Jacqueline T, Dobbs, Matthew B, Gurnett, Christina A

“…Deletions of the HOXC gene cluster result in variable phenotypes in mice, but have been rarely described in humans. To report chromosome 12q13.13…”
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Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate by Leslie, Elizabeth J., Carlson, Jenna C., Shaffer, John R., Butali, Azeez, Buxó, Carmen J., Castilla, Eduardo E., Christensen, Kaare, Deleyiannis, Fred W. B., Leigh Field, L., Hecht, Jacqueline T., Moreno, Lina, Orioli, Ieda M., Padilla, Carmencita, Vieira, Alexandre R., Wehby, George L., Feingold, Eleanor, Weinberg, Seth M., Murray, Jeffrey C., Beaty, Terri H., Marazita, Mary L.

“…Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and…”
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Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion by Quiggle, Ashley, Charng, Wu-Lin, Antunes, Lilian, Nikolov, Momchil, Bledsoe, Xavier, Hecht, Jacqueline T., Dobbs, Matthew B., Gurnett, Christina A.

“…Clubfoot, a congenital deformity that presents as a rigid, inward turning of the foot, affects approximately 1 in 1000 infants and occurs as an isolated birth…”
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Joint Degeneration in a Mouse Model of Pseudoachondroplasia: ER Stress, Inflammation, and Block of Autophagy by Hecht, Jacqueline T., Veerisetty, Alka C., Hossain, Mohammad G., Patra, Debabrata, Chiu, Frankie, Coustry, Francoise, Posey, Karen L.

“…Pseudoachondroplasia (PSACH), a short limb skeletal dysplasia associated with premature joint degeneration, is caused by misfolding mutations in cartilage…”
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Natural history study of Pseudoachondroplasia: A focus on oral health by Patel, Omkar, Hashmi, S. Shahrukh, Chiquet, Brett, Hecht, Jacqueline T.

“…Background Pseudoachondroplasia (PSACH) is a rare dwarfing condition characterized by short limbs and fingers, and multiple skeletal…”
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Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US by Hoover-Fong, Julie E, Schulze, Kerry J, Alade, Adekemi Y, Bober, Michael B, Gough, Ethan, Hashmi, S Shahrukh, Hecht, Jacqueline T, Legare, Janet M, Little, Mary Ellen, Modaff, Peggy, Pauli, Richard M, Rodriguez-Buritica, David F, Serna, Maria E, Smid, Cory, Liu, Chengxin, McGready, John

“…Achondroplasia is the most common genetic skeletal disorder causing disproportionate short stature/dwarfism. Common additional features include spinal…”
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Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D by McMillin, Margaret J., Below, Jennifer E., Shively, Kathryn M., Beck, Anita E., Gildersleeve, Heidi I., Pinner, Jason, Gogola, Gloria R., Hecht, Jacqueline T., Grange, Dorothy K., Harris, David J., Earl, Dawn L., Jagadeesh, Sujatha, Mehta, Sarju G., Robertson, Stephen P., Swanson, James M., Faustman, Elaine M., Mefford, Heather C., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.

“…Distal arthrogryposis (DA) syndromes are the most common of the heritable congenital-contracture disorders, and ∼50% of cases are caused by mutations in genes…”
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