Cargando…

Case Report: Brachydactyly Type A1 Induced by a Novel Variant of in-Frame Insertion in the IHH Gene

Brachydactyly type A1 (BDA1) is an autosomal dominant inherited disease characterized by the shortness/absence of the middle phalanges, which can be induced by mutations in the Indian hedgehog gene (IHH). Rheumatoid arthritis (RA) is a chronic, systemic autoimmune disease characterized by joint dest...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zeng, Feier, Liu, Huan, Xia, Xuyang, Shu, Yang, Cheng, Wei, Xu, Heng, Yin, Geng, Xie, Qibing
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9163809/ https://www.ncbi.nlm.nih.gov/pubmed/35669189 http://dx.doi.org/10.3389/fgene.2022.814786

Ejemplares similares

A novel variant of IHH in a Chinese family with brachydactyly type 1
por: Yang, Qi, et al.
Publicado: (2020)

Whole-exome sequencing identifies a novel IHH insertion in an Ontario family with brachydactyly type A1
por: Ho, Rosettia, et al.
Publicado: (2018)

Spondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report
por: Puvabanditsin, Surasak, et al.
Publicado: (2022)

Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1
por: Ozaki, Nozomu, et al.
Publicado: (2021)

Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1
por: Jang, Mi-Ae, et al.
Publicado: (2015)

p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation
por: Shen, Lu, et al.
Publicado: (2019)

Brachydactyly
por: Temtamy, Samia A, et al.
Publicado: (2008)

Missense mutations in IHH impair Indian Hedgehog signaling in C3H10T1/2 cells: Implications for brachydactyly type A1, and new targets for Hedgehog signaling
por: Guo, Shengzhen, et al.
Publicado: (2009)

Knockdown Indian Hedgehog (Ihh) does not delay Fibular Fracture Healing in genetic deleted Ihh mice and pharmaceutical inhibited Ihh Mice
por: Li, Shengchun, et al.
Publicado: (2018)

Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly
por: Elli, Francesca Marta, et al.
Publicado: (2022)

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1
por: Racacho, Lemuel, et al.
Publicado: (2015)

A novel variant in the ROR2 gene underlying brachydactyly type B: a case report
por: Shao, Jiaqi, et al.
Publicado: (2022)

Anomalie osseuse rare: brachydactylie non syndromique de type C
por: Ghozlani, Imad, et al.
Publicado: (2016)

In-Frame Variants in STAG3 Gene Cause Premature Ovarian Insufficiency
por: Xiao, Wen-Juan, et al.
Publicado: (2019)

Brachydactyly Mental Retardation Syndrome Diagnosed in Adulthood
por: Mahendhar, Rupak, et al.
Publicado: (2018)

Hypertension With Brachydactyly Syndrome: A Case Report
por: Asim, Rizwan, et al.
Publicado: (2020)

A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4
por: Takeyari, Shinji, et al.
Publicado: (2023)

Identification of copy number variants contributing to hallux valgus
por: Zhou, Wentao, et al.
Publicado: (2023)

Brachydactyly E: isolated or as a feature of a syndrome
por: Pereda, Arrate, et al.
Publicado: (2013)

Brachydactyly mental retardation syndrome with growth hormone deficiency
por: Arefzadeh, Alireza, et al.
Publicado: (2018)

Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature
por: Chatterjee, Daipayan
Publicado: (2014)

An Upstream Open Reading Frame Represses Translation of Chicken PPARγ Transcript Variant 1
por: Chu, Yankai, et al.
Publicado: (2020)

IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
por: Wormser, Ohad, et al.
Publicado: (2023)

The inhibitory roles of Ihh downregulation on chondrocyte growth and differentiation
por: Deng, Ang, et al.
Publicado: (2018)

An Insertion Variant in CRH Confers an Increased Risk of Central Serous Chorioretinopathy
por: Jin, En-Zhong, et al.
Publicado: (2022)

IRE1α regulates the PTHrP-IHH feedback loop to orchestrate chondrocyte hypertrophy and cartilage mineralization
por: Fan, Mengtian, et al.
Publicado: (2022)

Moebius Syndrome with Hypoglossal Palsy, Syndactyly, Brachydactyly, and Anisometropic Amblyopia
por: Ali, Muhammad Hassaan, et al.
Publicado: (2018)

Regulatory Network and Prognostic Effect Investigation of PIP4K2A in Leukemia and Solid Cancers
por: Zhang, Shouyue, et al.
Publicado: (2019)

Identification of Duplication Downstream of BMP2 in a Chinese Family with Brachydactyly Type A2 (BDA2)
por: Liu, Xudong, et al.
Publicado: (2014)

Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism
por: Bae, Jihong, et al.
Publicado: (2018)

A Rare Case of Brachydactyly Type A Presenting a Dilemma in Clinical Classification of the Subtype
por: Nambi, G. I., et al.
Publicado: (2020)

Mesenchymal stem cells overexpressing Ihh promote bone repair
por: Zou, Shasha, et al.
Publicado: (2014)

Cooperation of BMP and IHH signaling in interdigital cell fate determination
por: Murgai, Arunima, et al.
Publicado: (2018)

Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line
por: Klouwer, Femke C. C., et al.
Publicado: (2016)

Comparative and evolutionary analysis of the reptilian hedgehog gene family (Shh, Dhh, and Ihh)
por: Xia, Tian, et al.
Publicado: (2019)

A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease
por: Kolesnikova, Masha, et al.
Publicado: (2022)

Variations in high density cholesterol levels based on apolipoprotein E variant and exercise type
por: Chang, Huan-Cheng, et al.
Publicado: (2023)

Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report
por: Jamsheer, Aleksander, et al.
Publicado: (2012)

Sirt6 regulates postnatal growth plate differentiation and proliferation via Ihh signaling
por: Piao, Jinying, et al.
Publicado: (2013)

Accuracy of various tests alone and in combination to differentiate IHH from CDGP
por: Mishra, Pratap Kumar, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_l29oj6nvu765pbf447gd5h3v50