Results 31 to 40 of about 385,840 (284)

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. [PDF]

, 2017
POP1 is a large protein common to the RNase-MRP and RNase-P (RMRP) endoribonucleoprotein complexes. Although its precise function is unknown, it appears to participate in the assembly or stability of both complexes.
Duncan, E.L., Del Pozo, A, Rivera-Pedroza, C. I., Ibáñez-Garikano, K., Ibáñez-Garikano, K, Offiah, A, Offiah, A., Cormier-Daire, V., Barraza-García, J., Barraza-García, J, Rivera-Pedroza, C I, Belinchón-Martínez, A, Duncan, E. L., Heath, K.E., Heath, K. E., Cormier-Daire, V, Clark, G. R., Belinchón-Martínez, A., Heath, K E, Hisado-Oliva, A, Rivera-Pedroza, C.I., Del Pozo, A., Hisado-Oliva, A., Prieto-Matos, P., Duncan, E L, Clark, G.R., Clark, G R, Sentchordi-Montané, L., Prieto Matos, Pablo, Sentchordi-Montané, L   +29 more
core   +1 more source

The natural history of acetabular dysplasia and later total hip arthroplasty in late-detected DDH: 48 patients with closed reduction followed to a mean age of 62 years

Acta Orthopaedica, 2023
Background and purpose: The long-term prognosis of acetabular dysplasia without subluxation in developmental dislocation of the hip (DDH) is uncertain.
Terje Terjesen
doaj   +1 more source

Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases

Diagnostic Pathology, 2019
Background This study aims to provide genetic diagnoses for 30 cases of fetal skeletal dysplasia, and a molecular basis for the future prenatal diagnosis of fetal skeletal dysplasia.
Yan Liu, Li Wang, Yi-Ke Yang, Ying Liang, Tie-Juan Zhang, Na Liang, Li-Man Yang, Si-Jing Li, Dan Shan, Qing-Qing Wu   +9 more
doaj   +1 more source

The p38 MAPK pathway is essential for skeletogenesis and bone homeostasis in mice [PDF]

, 2010
Nearly every extracellular ligand that has been found to play a role in regulating bone biology acts, at least in part, through MAPK pathways. Nevertheless, much remains to be learned about the contribution of MAPKs to osteoblast biology in vivo. Here we
Zhai, Bo, Weiguo Zou, Shim, Jae-Hyuck, Hu, Dorothy, Lotinun, Sutada, Glimcher, Laurie H., Arthur, Simon; id_orcid, Michael D. Schneider, Yasuyo Sano, Min Xie, Matthew B. Greenblatt, Laurie H. Glimcher, Jae-Hyuck Shim, Roger Davis, Xie, Min, Sano, Yasuyo, Despina Sitara, Schweitzer, Michelle, Park, Jin Mo, Schneider, Michael D., Gygi, Steven, Greenblatt, Matthew B., Baron, Roland, Simon Arthur, Zou, Weiguo, Jin Mo Park, Michelle Schweitzer, Davis, Roger, Roland Baron, Sitara, Despina, Sutada Lotinun, Dorothy Hu, Bo Zhai, Steven Gygi   +33 more
core   +1 more source

Schimke immunoosseous dysplasia: defining skeletal features [PDF]

, 2010
Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis.
Guiliana, Fryssira, Helen, Alpay, Harika, Rusu, Cristina, Hunter, Kshamta B., Stajic, Natasa, Saraiva, Sigaudy, Sabine, Luecke, Thomas, Taha, Doris, Spranger, Juergen, Lama, Asakura, Cairns, Robyn, Fruend, Stefan, Loirat, Chantal, Mayfield, Christy, Smithson, Sarah F., Lamfers, Petra, Goodman, David, Cransberg, Karlien, Bogdanovic, Radovan, Majore, Silvia, Shoemaker, Lawrence, Bonneau, Dominique, Helmke, Knut, Yumi, Hinkelmann, Barbara, Schmidt, Beate, Boerkoel, Cornelius F., Andre, Jean-Luc, Jorge M., Pontz, Bertram F.   +32 more
core   +4 more sources

Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia. [PDF]

Clin Genet
Mulibrey nanism (MUL) is a monogenic growth disorder caused by mutations in TRIM37, with pre-and postnatal growth failure, typical craniofacial features, perimyocardial heart disease, infertility and predisposition to tumors.
Karlberg S, Toiviainen-Salo S, Lipsanen-Nyman M, Mäkitie O.   +3 more
europepmc   +2 more sources

Complications and Revisions After Spine Surgery in Patients With Skeletal Dysplasia: Have We Improved?

Global Spine Journal, 2023
Study Design: Retrospective case series. Objective: To report contemporary rates of complications and subsequent surgery after spinal surgery in patients with skeletal dysplasia.
Karim Shafi MD, Francis Lovecchio MD, Maria Sava BA, Michael Steinhaus MD, Andre Samuel MD, Erin Carter MS, Darren Lebl MD, MBA, James Farmer MD, Cathleen Raggio MD   +8 more
doaj   +1 more source

A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family. [PDF]

, 2012
Microcephaly–lymphedema–chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a ...
Ostergaard, P, Kantekin, E, Ozkinay, F, Özkınay F., Kantekin, Esin, Ozturk T., Jeffery, S, Fusun Atlihan, Jeffery S., Hazan F., Atlihan, Fusun, Esin Kantekin, ÖZTÜRK, ARİF TAYLAN, Ostergaard P., Steve Jeffery, Ozturk, T, Jeffery, Steve, Kantekin E., Hazan, F, Pia Ostergaard, Taylan Ozturk, Ozkinay, Ferda, Ostergaard, Pia, Filiz Hazan, Atlihan F., Atlihan, F, Ferda Ozkinay, Hazan, Filiz   +27 more
core   +1 more source

Perinatal lethal skeletal dysplasia: a case report [PDF]

, 2016
The word dysplasia originates from ancient Greek words dys (anomalous) and plasia (formation). Skeltal dysplasia (SD) is a heterogeneous group of congenital anomalies characterized by abnormalities in the development of the bone and cartilage tissue ...
Goel, Poonam, Dubey, Sunita, Verma, Meesha   +2 more
core   +1 more source

In vivo direct lentiviral gene therapy improves disease pathology in a mucopolysaccharidosis IVA murine model

Molecular Therapy: Methods & Clinical Development
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder that causes the accumulation of keratan sulfate (KS) and chondroitin-6-sulfate in bone and cartilage.
Betul Celik, Estera Rintz, Shaukat Khan, Andrés Felipe Leal, Fnu Nidhi, Shunji Tomatsu   +5 more
doaj   +1 more source