Výsledky vyhledávání - "Skeletal phenotype"

Akademický článek

A New Pipeline to Automatically Segment and Semi-Automatically Measure Bone Length on 3D Models Obtained by Computed Tomography

Autor: Santiago Beltran Diaz, Chee Ho H’ng, Xinli Qu, Michael Doube, John Tan Nguyen, Michael de Veer, Olga Panagiotopoulou, Alberto Rosello-Diez

Publikováno v: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

The characterization of developmental phenotypes often relies on the accurate linear measurement of structures that are small and require laborious preparation. This is tedious and prone to errors, especially when repeated for the multiple replicates

Externí odkaz: https://doaj.org/article/f6277bf5635d4766802c8d5ba0c9f257

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Akademický článek

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Akademický článek

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The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report

Autor: Hope Northrup, Paul Hillman, Duraisamy Balaguru, Marta Frigeni, David Rodriguez-Buritica, Heather Saavedra, Kathryn Gunther

Publikováno v: American Journal of Medical Genetics Part A. 185:3510-3516

Mucopolysaccharidosis type IVA (OMIM 253000) is an autosomal recessive disorder caused by defective activity of the N-acetylgalactosamine 6-sulfatase (GALNS) enzyme. In 2014, enzyme replacement therapy (ERT) using recombinant human GALNS became avail

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cb84beb0e8922b75af433dd6cc59e213
https://doi.org/10.1002/ajmg.a.62469

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Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status

Autor: Chiara Leoni, Michele Pelliccioni, Roberta Onesimo, Donato Rigante, Valentina Giorgio, Marco Tartaglia, Elisabetta Flex, Domenico M. Romeo, Marta Tedesco, Giuseppe Zampino, Antonio Valassina, Mariangela Di Già

Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet Journal of Rare Diseases

Background Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies. Due to their rarity, the characterization of the musculo-skeletal phenotype in bo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c103f24a610ec3bf7fab4870054bec7d
https://doaj.org/article/00d3519f53554870842d7266f4fbf9a4

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Akademický článek

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Fluctuating Asymmetry and Stress in Macaca fuscata: Does Captivity Affect Morphology?

Autor: Federica Landi, Fabio Alfieri, Ian Towle, Alessio Veneziano, Antonio Profico

Publikováno v: Applied Sciences, Vol 11, Iss 7879, p 7879 (2021)
Applied Sciences; Volume 11; Issue 17; Pages: 7879

Fluctuating Asymmetry (FA) in morphology is used as a proxy for developmental instability in response to stress factors. FA has important implications for understanding the impact of differential environments and stressors on the skeletal phenotype.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a120ca62e41408d50daaa71f9b9f21a2
http://edoc.hu-berlin.de/18452/24059

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A New Pipeline to Automatically Segment and Semi-Automatically Measure Bone Length on 3D Models Obtained by Computed Tomography

Autor: Xinli Qu, Alberto Roselló-Díez, John Tan Nguyen, Michael Doube, Chee Ho H’ng, Olga Panagiotopoulou, Santiago Beltran Diaz, Michael John de Veer

Publikováno v: Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Frontiers in Cell and Developmental Biology

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cad25ae3b2fb569f1f366967e0315ca
https://www.frontiersin.org/articles/10.3389/fcell.2021.736574/full

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Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome

Autor: Kenji Kurosawa, Koji Muroya, Kaoru Katsumata, Hiroaki Murakami, Noriko Aida, Nao Takizaki, Yumi Enomoto, Hiroshi Ishikawa, Gen Nishimura, Yoshinori Tsurusaki

Publikováno v: Human Genome Variation, Vol 7, Iss 1, Pp 1-3 (2020)
Human Genome Variation

3M syndrome is an autosomal recessive disorder characterized by severe growth retardation, distinct facial features, and skeletal changes, including long slender tubular bones and tall vertebral bodies. We report a Japanese patient with 3M syndrome c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84aa09037ed9388f16f423733b75f398
http://link.springer.com/article/10.1038/s41439-020-0090-6

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Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant

Autor: Peggy Modaff, Richard M. Pauli, Janet M. Legare, Eden Faye

Publikováno v: Molecular Syndromology. 10:154-160

TRPV4, a nonselective calcium permeable ion channel, is expressed broadly in many organs including bone and neurons. Pathogenic variants in TRPV4 are known to cause both a spectrum of skeletal dysplasias and neuropathies. Recent publications have doc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efebf7e5cc45bb7fc6bbe360480b9473
https://doi.org/10.1159/000495778

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