Journal ArticleDOI
De novo mutation in COL2A1 leads to lethal foetal skeletal dysplasia.
TLDR
In this paper, a de novo mutation in human COL2A1 related to lethal skeletal dysplasia and expanded the mutation spectrum of type II collagenopathies was identified using bioinformatics, zebrafish models, and assisted reproduction technology (ART) combined with preimplantation genetic testing for monogenic diseases.About:
This article is published in Bone.The article was published on 2021-09-04. It has received 5 citations till now. The article focuses on the topics: Missense mutation & Mutation (genetic algorithm).read more
Citations
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Zebrafish Is a Powerful Tool for Precision Medicine Approaches to Neurological Disorders
TL;DR: The predictive power of zebrafish in the discovery of novel, precise therapeutic approaches in neurosciences is discussed and light is shed on the advantages and abilities of this in vivo model to develop tailored medicinal strategies.
Journal ArticleDOI
Zebrafish Model of Stickler Syndrome Suggests a Role for Col2a1a in the Neural Crest during Early Eye Development
TL;DR: Results suggest that Col2a1a is a downstream target of RA in the cranial neural crest and is required for both craniofacial and eye development.
Journal ArticleDOI
Trio whole-exome sequencing reveals a novel de novo mutation in COL2A1 gene in an Iranian patient with hypochondroplasia
TL;DR: In this article , the authors performed a trio-analysis of whole-exome sequencing (WES) and in silico investigation for an Iranian patient with hypochondroplasia and her parents.
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vwa1 Knockout in Zebrafish Causes Abnormal Craniofacial Chondrogenesis by Regulating FGF Pathway
TL;DR: In this paper , the effects of the VWA1 mutation at the molecular level were investigated by generating a vwa1-knockout zebrafish line using CRISPR/Cas9.
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Environmentally relevant levels of BPA and NOR disturb early skeletal development in zebrafish
TL;DR: In this paper , single and combined effects of BPA and norfloxacin (NOR, a typical species of FQs) at an environmentally relevant level (1 μg/L) on early skeletal development in zebrafish were evaluated.
References
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards,Nazneen Aziz,Nazneen Aziz,Sherri J. Bale,David P. Bick,Soma Das,Julie M. Gastier-Foster,Wayne W. Grody,Madhuri Hegde,Elaine Lyon,Elaine B. Spector,Karl V. Voelkerding,Heidi L. Rehm +12 more
TL;DR: Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends thatclinical molecular genetic testing should be performed in a Clinical Laboratory Improvement Amendments–approved laboratory, with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or the equivalent.
Journal ArticleDOI
A method and server for predicting damaging missense mutations.
Ivan Adzhubei,Steffen Schmidt,Leonid Peshkin,Vasily Ramensky,Anna Gerasimova,Peer Bork,Alexey S. Kondrashov,Shamil R. Sunyaev +7 more
TL;DR: A new method and the corresponding software tool, PolyPhen-2, which is different from the early tool polyPhen1 in the set of predictive features, alignment pipeline, and the method of classification is presented and performance, as presented by its receiver operating characteristic curves, was consistently superior.
Journal ArticleDOI
Stages of embryonic development of the zebrafish.
TL;DR: A series of stages for development of the embryo of the zebrafish, Danio (Brachydanio) rerio is described, providing for flexibility and continued evolution of the staging series as the authors learn more about development in this species.
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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.
TL;DR: This protocol describes the use of the 'Sorting Tolerant From Intolerant' (SIFT) algorithm in predicting whether an AAS affects protein function.
Journal ArticleDOI
Nosology and classification of genetic skeletal disorders: 2019 revision.
Geert Mortier,Daniel H. Cohn,Valérie Cormier-Daire,Christine Hall,Deborah Krakow,Stefan Mundlos,Gen Nishimura,Stephen P. Robertson,Luca Sangiorgi,Ravi Savarirayan,David Sillence,Andrea Superti-Furga,Sheila Unger,Matthew L. Warman +13 more
TL;DR: This newest and tenth version of the Nosology comprises 461 different diseases that are classified into 42 groups based on their clinical, radiographic, and/or molecular phenotypes and remarkable, pathogenic variants affecting 437 different genes have been found in 425/461 (92%) of these disorders.