Unsuccessful intubation of a patient with craniotubular hyperostosis

Autor: David Dedić, Mario Nikolić, Morena Milić

In everyday practice we come across patients with a certain anatomical characteristic which can indicate a risk of a difficult intubation. Craniotubular hyperostosis is a group of rare diseases which have in common craniofacial hyperostosis and scler

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3c7d5a352c56f5ff36dce1263d53637
https://www.bib.irb.hr/1113467

Sclerostin: Intracellular mechanisms of action and its role in the pathogenesis of skeletal and vascular disorders

Autor: Mike Smertka, Jerzy Chudek, Barbara Pietrzyk

Publikováno v: Advances in Clinical and Experimental Medicine. 26:1283-1291

Sclerostin is a glycoprotein involved in the regulation of bone metabolism, exclusively secreted by osteocytes. It affects the activity of bone morphogenetic proteins (BMPs) and is an inhibitor of the Wnt/β-catenin metabolic pathway in bone cells. O

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::956bfac46a19c0cdc33631a7a3210963
https://doi.org/10.17219/acem/68739

Human Genetics of Sclerosing Bone Disorders

Autor: Eveline Boudin, Geert Mortier, Raphaël De Ridder, Wim Van Hul

Publikováno v: CURRENT OSTEOPOROSIS REPORTS

Purpose of Review The group of sclerosing bone disorders encompasses a variety of disorders all marked by increased bone mass. In this review, we give an overview of the genetic causes of this heterogeneous group of disorders and briefly touch upon t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68e2c26f3d68f3c5442d5594738e3647
https://pubmed.ncbi.nlm.nih.gov/29656376

Genetic Screening of WNT4 and WNT5B in Two Populations with Deviating Bone Mineral Densities

Autor: Eveline Boudin, Ellen Steenackers, Torben Leo Nielsen, Marianne Andersen, Kim Brixen, Wim Van Hul, Gretl Hendrickx

Publikováno v: Hendrickx, G, Boudin, E, Steenackers, E, Nielsen, T L, Andersen, M, Brixen, K & Van Hul, W 2017, ' Genetic Screening of WNT4 and WNT5B in Two Populations with Deviating Bone Mineral Densities ', Calcified Tissue International, vol. 100, no. 3, pp. 244-249 . https://doi.org/10.1007/s00223-016-0213-8
Calcified tissue international

A role for WNT4 and WNT5B in bone metabolism was indicated by genome-wide association studies (GWAS) and a Wnt4 knockout mouse model. The aim of this study was therefore to replicate and further investigate the causality between genetic variation in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89ec0ccfa898b9ba94db9d311e350134
https://portal.findresearcher.sdu.dk/da/publications/39f7b8cd-095c-4d17-a5e9-37b66f8172a4

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

Autor: Mina Ryten, Sérgio B. Sousa, Richard H Scott, Estelle Chanudet, Glenn Anderson, Lionel Van Maldergem, Dagan Jenkins, Philip L. Beales, Krystyna H. Chrzanowska, James Docker, Jorge M. Saraiva, Philip Stanier, Gudrun E. Moore, Miho Ishida, Angela Barnicoat, Joaquim Sá, Martina Simandlova, Duangrurdee Wattanasirichaigoon, Guergana Tasseva, Jean E. Vance, Alistair Calder

Publikováno v: Nature Genetics. 46:70-76

Lenz-Majewski syndrome (LMS) is a syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. By using whole-exome sequencing and selecting variants consistent with the predicted dominan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9095fc09a7d92cabf8a2a5dc6673d2d1
https://doi.org/10.1038/ng.2829