Results 31 to 40 of about 39,956 (278)

Prenatal diagnosis of a novel pathogenic variation in the ACAN gene presenting with isolated shortening of fetal long bones in the second trimester of gestation: a case report

BMC Pregnancy and Childbirth, 2021
Background Heterozygous mutations of the ACAN gene are a major cause of different evolutive growth defects in the pediatric population, but were never described as a cause of fetal skeletal dysplasia.
Paolo Toscano, Lavinia Di Meglio, Fortunato Lonardo, Letizia Di Meglio, Laura Letizia Mazzarelli, Carmine Sica, Aniello Di Meglio   +6 more
doaj   +1 more source

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

Orphanet Journal of Rare Diseases, 2021
Background Skeletal dysplasia is typically diagnosed using a combination of radiographic imaging, clinical examinations, and molecular testing. Identifying a molecular diagnosis for an individual with a skeletal dysplasia can lead to improved clinical ...
Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, Matti Hero, Inka Saarinen, Liisa Pelttari, Kimberly Gall, Satu Valo, Johanna M. Huusko, Jonna Tallila, Johanna Sistonen, Juha Koskenvuo, Tero-Pekka Alastalo   +12 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

LTBP3 Frameshift Variant in British Shorthair Cats with Complex Skeletal Dysplasia [PDF]

, 2021
We investigated a highly inbred family of British Shorthair cats in which two offspring were affected by deteriorating paraparesis due to complex skeletal malformations.
Rudd Garces, Gabriela, Theresa Störk, Vidhya Jagannathan, Holger A. Volk, Marion Hewicker-Trautwein, Störk, Theresa, Kirsten Hülskötter, Hülskötter, Kirsten, Tosso Leeb, Gabriela Rudd Garces, Knebel, Anna, Jagannathan, Vidhya, Leeb, Tosso, Hewicker Trautwein, Marion, Anna Knebel, Hewicker-Trautwein, Marion, Volk, Holger A.   +16 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

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

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

Morphology and development of a novel murine skeletal dysplasia [PDF]

PeerJ, 2019
Background Limb bones develop and grow by endochondral ossification, which is regulated by specific cell and molecular pathways. Changes in one or more of these pathways can have severe effects on normal skeletal development, leading to skeletal ...
Marta Marchini, Elizabeth Silva Hernandez, Campbell Rolian   +2 more
doaj   +2 more sources

Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis

, 2023
Skeletal dysplasias are a heterogeneous collection of genetic disorders characterized by bone and cartilage abnormalities, and they encompass over 400 disorders.
Grigelioniene, G,, Handa, Atsuhiko,, Nishimura, G, Grigelioniene, Giedre,, Nishimura, Gen,, Handa, A   +5 more
core   +1 more source