Search Results - "Sarukhanov, Anna"

TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions by Zieba, Jennifer, Forlenza, Kimberly Nicole, Khatra, Jagteshwar Singh, Sarukhanov, Anna, Duran, Ivan, Rigueur, Diana, Lyons, Karen M, Cohn, Daniel H, Merrill, Amy E, Krakow, Deborah

“…Spondylocarpotarsal synostosis (SCT) is an autosomal recessive disorder characterized by progressive vertebral fusions and caused by loss of function mutations…”
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HSP47 and FKBP65 cooperate in the synthesis of type I procollagen by Duran, Ivan, Nevarez, Lisette, Sarukhanov, Anna, Wu, Sulin, Lee, Katrina, Krejci, Pavel, Weis, Maryann, Eyre, David, Krakow, Deborah, Cohn, Daniel H

“…Osteogenesis imperfecta (OI) is a genetic disorder that results in low bone mineral density and brittle bones. Most cases result from dominant mutations in the…”
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WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia by Huber, Céline, Wu, Sulin, Kim, Ashley S., Sigaudy, Sabine, Sarukhanov, Anna, Serre, Valérie, Baujat, Genevieve, Le Quan Sang, Kim-Hanh, Rimoin, David L., Cohn, Daniel H., Munnich, Arnold, Krakow, Deborah, Cormier-Daire, Valérie

“…Short-rib polydactyly (SRP) syndrome type III, or Verma-Naumoff syndrome, is an autosomal-recessive chondrodysplasia characterized by short ribs, a narrow…”
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Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling by Merrill, Amy E., Sarukhanov, Anna, Krejci, Pavel, Idoni, Brian, Camacho, Natalia, Estrada, Kristine D., Lyons, Karen M., Deixler, Hannah, Robinson, Haynes, Chitayat, David, Curry, Cynthia J., Lachman, Ralph S., Wilcox, William R., Krakow, Deborah

“…Fibroblast growth factor receptor 2 (FGFR2) is a crucial regulator of bone formation during embryonic development. Both gain and loss-of-function studies in…”
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NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot by Duran, Ivan, Tenney, Jessica, Warren, Carmen M., Sarukhanov, Anna, Csukasi, Fabiana, Skalansky, Mark, Iruela‐Arispe, Maria L., Krakow, Deborah

“…Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect. It involves anatomical abnormalities that change the normal flow of blood…”
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TGF[beta] and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions by Zieba, Jennifer, Forlenza, Kimberly Nicole, Khatra, Jagteshwar Singh, Sarukhanov, Anna, Duran, Ivan, Rigueur, Diana, Lyons, Karen M, Cohn, Daniel H, Merrill, Amy E, Krakow, Deborah

“…Spondylocarpotarsal synostosis (SCT) is an autosomal recessive disorder characterized by progressive vertebral fusions and caused by loss of function mutations…”
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A novel skeletal disorder defines an intracellular role for FGFR2 during development by Merrill, Amy Elizabeth, Sarukhanov, Anna, Krejci, Pavel, Idoni, Brian, Lachman, Ralph, Wilcox, William, Krakow, Deborah

“…Abstract only Fibroblast growth factor (FGF) signaling critically regulates bone formation during embryonic development. This is exemplified in…”
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Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges by Krakow, Deborah, Cohn, Daniel H., Wilcox, William R., Noh, Grace J., Raffel, Leslie J., Sarukhanov, Anna, Ivanova, Margarita H., Danielpour, Moise, Grange, Dorothy K., Elliott, Alison M., Bernstein, Jonathan A., Rimoin, David L., Merrill, Amy E., Lachman, Ralph S.

“…Bent Bone Dysplasia‐FGFR2 type is a relatively recently described bent bone phenotype with diagnostic clinical, radiographic, and molecular characteristics…”
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WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-[kappa]B Pathway in Cilia by Huber, Céline, Wu, Sulin, Kim, Ashley S, Sigaudy, Sabine, Sarukhanov, Anna, Serre, Valérie, Baujat, Genevieve, Sang, Kim-Hanh Le Quan, Rimoin, David L, Cohn, Daniel H, Munnich, Arnold, Krakow, Deborah, Cormier-Daire, Valérie

“…Short-rib polydactyly (SRP) syndrome type III, or Verma-Naumoff syndrome, is an autosomal-recessive chondrodysplasia characterized by short ribs, a narrow…”
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Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders by Martin, Brett M., Ivanova, Margarita H., Sarukhanov, Anna, Kim, Ashley, Power, Patricia, Pugash, Denise, Popescu, Oana-Eugenia, Lachman, Ralph S., Krakow, Deborah, Patel, Millan S.

“…Serpentine fibula polycystic kidney syndrome (SFPKS; OMIM600330) is a rare skeletal dysplasia with a characteristic phenotype that includes polycystic kidneys,…”
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TGF square and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions by Zieba, Jennifer, lenza, Kimberly Nicole, Khatra, Jagteshwar Singh, Sarukhanov, Anna, Duran, Ivan, Rigueur, Diana, Lyons, Karen M, Cohn, Daniel H, Merrill, Amy E, Krakow, Deborah

“…Spondylocarpotarsal synostosis (SCT) is an autosomal recessive disorder characterized by progressive vertebral fusions and caused by loss of function mutations…”
Get full text