Results 51 to 60 of about 35,518 (257)

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation [PDF]

, 2009
: Background: Recessive forms of osteogenesis imperfecta (OI) may be caused by mutations in LEPRE1, encoding prolyl 3-hydroxylase-1 (P3H1) or in CRTAP, encoding cartilage associated protein.
Coucke, Paul, De Paepe, Anne, Gevaert, Kris, Kayserili, H., Leroy, J. G., Malfait, Fransiska, Megarbane, A., Mortier, Geert, Symoens, Sofie, Willaert, Andy   +9 more
core   +2 more sources

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives. [PDF]

, 2016
Osteogenesis imperfecta is an inherited connective tissue disorder with wide phenotypic and molecular heterogeneity. A common issue associated with the molecular abnormality is a disturbance in bone matrix synthesis and homeostasis inducing bone ...
Aubry-Rozier, B., Bonafé, L., Bregou Bourgeois, A., Laurent-Applegate, L., Pioletti, D.P., Zambelli, P.Y.   +5 more
core   +2 more sources

The IMPACT Survey: the economic impact of osteogenesis imperfecta in adults

Orphanet Journal of Rare Diseases
Background The IMPACT survey aimed to elucidate the humanistic, clinical and economic burden of osteogenesis imperfecta (OI) on individuals with OI, their families, caregivers and wider society.
Tracy Hart, Ingunn Westerheim, Taco van Welzenis, Oliver Semler, Cathleen Raggio, Frank Rauch, Ruby Dadzie, Samantha Prince, Lena Lande Wekre   +8 more
doaj   +1 more source

Surprise and the singular plural

American Ethnologist, EarlyView.
Abstract Bodymind diversity, disability scholars argue, contributes to community and to ideals of human flourishing. Phenomenologists like Nancy and Arendt, meanwhile, foreground our human pluralism. But what does it mean to inhabit (and invent) a plural “we” across significant bodily difference? And why is the experience of surprise important to it? A
Cheryl Mattingly
wiley   +1 more source

The IMPACT Survey: the humanistic impact of osteogenesis imperfecta in adults

BMC Public Health
Background The IMPACT Survey explored the humanistic, clinical, and economic burden of osteogenesis imperfecta (OI) on individuals with OI, their families, caregivers, and wider society.
Taco van Welzenis, Ingunn Westerheim, Tracy Hart, Lena Lande Wekre, Oliver Semler, Frank Rauch, Laetitia Dewavrin, Ruby Dadzie, Samantha Prince, Cathleen Raggio   +9 more
doaj   +1 more source

Anestesia venosa total em paciente portador de Osteogênesis imperfecta: relato de caso Anestesia venosa total en paciente portador de Osteogénesis imperfecta: relato de caso Total intravenous anesthesia in Osteogenesis imperfecta patient: case report

Revista Brasileira de Anestesiologia, 2004
JUSTIFICATIVA E OBJETIVOS: A Osteogênesis Imperfecta é uma doença genética rara do tecido conjuntivo, com prevalência de 1/10000, que primariamente envolve a ossificação endocondral, resultando em ossos frágeis, múltiplas fraturas e deformidades ...
José Francisco Nunes Pereira das Neves, Roberto Silva Sant'Anna, João Rosa de Almeida, Rodrigo Machado Saldanha, Marcos Gonçalves Magalhães   +4 more
doaj   +1 more source

FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts

Cell Proliferation, EarlyView.
FAM20A variants cause AI1G, marked by enamel defects, gingival overgrowth and ectopic calcifications. RNA sequencing of patient‐derived gingival fibroblasts showed dysregulated genes in adhesion, proliferation and signalling pathways. Functional assays revealed increased cell proliferation, impaired ECM interactions and osteogenesis, suggesting FAM20A ...
Kanokwan Sriwattanapong, Sermporn Thaweesapphithak, Chompak Khamwachirapitak, Pannagorn Sae‐ear, Sasiprapa Prommanee, Noppadol Sa‐Ard‐Iam, Suphalak Phothichailert, Han Sung Jung, Vorasuk Shotelersuk, Thantrira Porntaveetus   +9 more
wiley   +1 more source

3D Micron-scale Imaging of the Cortical Bone Canal Network in Human Osteogenesis Imperfecta (OI) [PDF]

, 2013
Osteogenesis imperfecta (OI) is a genetic disorder leading to increased bone fragility. Recent work has shown that the hierarchical structure of bone plays an important role in determining its mechanical properties and resistance to fracture. The current
Albert, Carolyne, Busse, Bjoern, Harris, Gerald F., Jameson, John R., Smith, Peter A.   +4 more
core   +1 more source

Tissue-specific calibration of extracellular matrix material properties by transforming growth factor-beta and Runx2 in bone is required for hearing [PDF]

, 2010
Publisher version: http://www.nature.com/embor/journal/v11/n10/full/embor2010135.htmlDA - 20100917 IS - 1469-3178 (Electronic) IS - 1469-221X (Linking) LA - ENG PT - JOURNAL ARTICLEDA - 20100917 IS - 1469-3178 (Electronic) IS - 1469-221X (Linking) LA ...
Alexandra E Porter, Anil Lalwani, Carol G Chen, Currey JD, Delia S Brauer, Emily N Chin, Filvaroff E, Grayson W Marshall, Guive Balooch, Higashi K, Jacob Johnson, Jolie L Chang, Kristin Butcher, Lawrence Lustig, Mary Beth Humphrey, Omar Akil, Richard A Schneider, Rik Derynck, Robert O Ritchie, Sally J Marshall, Sorensen MS, Tamara Alliston   +21 more
core   +1 more source