Cargando…

A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly

BACKGROUND: Polydactyly is a common congenital malformation characterized by the presence of supernumerary fingers or toes. In this case study, we sought to identify the causative pathogenic factor in a family from a northern region of China affected by non‐syndromic postaxial polydactyly (PAP). MET...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Yusi, Hao, Xuguang, Jia, Xueyuan, Ji, Wei, Yuan, Shuai, Gnamey, Estelle Judith Abla, Huang, Min, Xu, Lidan, Zhang, Xuelong, Bai, Jing, Sun, Wenjing, Fu, Songbin, Liu, Yong, Wu, Jie
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266609/ https://www.ncbi.nlm.nih.gov/pubmed/35546307 http://dx.doi.org/10.1002/mgg3.1968

Ejemplares similares

Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease
por: Song, Sang-Mi, et al.
Publicado: (2014)

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency
por: Alston, Charlotte L., et al.
Publicado: (2015)

Identification of immune-related signatures and pathogenesis differences between thoracic aortic aneurysm patients with bicuspid versus tricuspid valves via weighted gene co-expression network analysis
por: Huang, Min, et al.
Publicado: (2023)

Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene
por: Cho, Won Kyoung, et al.
Publicado: (2018)

Vigo on Toothache, 1514
Publicado: (1899)

Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency
por: Aslan, Deniz
Publicado: (2021)

Association of Toll-Like Cell Receptors TLR2 (p.Arg753GLN) and TLR4 (p.Asp299GLY) Polymorphisms with Indicators of General and Local Immunity in Patients with Atopic Dermatitis
por: Tyurin, Yury A., et al.
Publicado: (2017)

Non-syndromic cardiac progeria in a patient with the rare pathogenic p.Asp300Asn variant in the LMNA gene
por: Marian, Ali J.
Publicado: (2017)

Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn
por: Efthymiou, Stephanie, et al.
Publicado: (2023)

The distribution of three candidate cold-resistant SNPs in six minorities in North China
por: Li, Qiuyan, et al.
Publicado: (2018)

Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly
por: Ahmad, Safeer, et al.
Publicado: (2023)

Long-Term Follow-Up of Tufting Enteropathy Caused by EPCAM Mutation p.Asp253Asn and Absent EPCAM Expression
por: Ozler, Oğuz, et al.
Publicado: (2020)

A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)
por: Grosz, Bianca R., et al.
Publicado: (2019)

Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome
por: Wonkam, Ambroise, et al.
Publicado: (2013)

Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family
por: Ali, Muhammad Z., et al.
Publicado: (2020)

An East Asian Common Variant Vinculin P.Asp841His Was Associated With Sudden Unexplained Nocturnal Death Syndrome in the Chinese Han Population
por: Cheng, Jianding, et al.
Publicado: (2017)

The Clinical Manifestation of p.Asp50Asn Heterozygous Mutation of GJB2 Gene in 3 Members of a Family Is Similar to That of Clouston Syndrome
por: Xu, Yanjiang, et al.
Publicado: (2022)

Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family
por: Ghafoor, Saima, et al.
Publicado: (2022)

HES1 is a novel downstream modifier of the SHH-GLI3 Axis in the development of preaxial polydactyly
por: Sharma, Deepika, et al.
Publicado: (2021)

Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract
por: Jia, Xueyuan, et al.
Publicado: (2013)

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes
por: Baas, Martijn, et al.
Publicado: (2021)

A Novel Frameshift Mutation, KCNH2 [p.Asp896ArgfsX79], Leading to Malignant Ventricular Arrhythmia, Identified After Treatment of Gastrointestinal Bleeding
por: Kim, Wan Cheol, et al.
Publicado: (2021)

Association of APEX1 and XRCC1 Gene Polymorphisms With HIV-1 Infection Susceptibility and AIDS Progression in a Northern Chinese MSM Population
por: Liu, Bangquan, et al.
Publicado: (2022)

Construcción de macropera y camino de acceso Furbero 1514 /
por: Molina reyes, Eduardo
Publicado: (2010)

A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome
por: Mitsiakos, Georgios, et al.
Publicado: (2019)

PMS2 germline mutation c.1577delA (p.Asp526Alafs(∗)69)-induced Lynch syndrome-associated endometrial cancer: A case report
por: Cui, Man-Hua, et al.
Publicado: (2019)

A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex
por: Volodarsky, Michael, et al.
Publicado: (2014)

Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway
por: Shen, Xiaofang, et al.
Publicado: (2022)

An Arg-Gly-Asp sequence within thrombin promotes endothelial cell adhesion
Publicado: (1991)

Cell attachment to thrombospondin: the role of ARG-GLY-ASP, calcium, and integrin receptors
Publicado: (1988)

Fibronectin receptor of human macrophages recognizes the sequence Arg- Gly-Asp-Ser
Publicado: (1985)

An Asp7Gly Substitution in PPARG Is Associated with Decreased Transcriptional Activation Activity
por: Hua, Liushuai, et al.
Publicado: (2014)

Pseudomonas aeruginosa Keratitis: Protease IV and PASP as Corneal Virulence Mediators
por: O’Callaghan, Richard, et al.
Publicado: (2019)

The protective role of TBX21-1514T>C polymorphism in susceptibility to multiple sclerosis
por: Akbarian, Fatemeh, et al.
Publicado: (2018)

1514. Factors Associated with an Infectious Diseases Consultation for Pediatric Staphylococcus aureus Bacteremia
por: Curley, Tara E, et al.
Publicado: (2019)

PO-1514 Prospective assessment of employees stress during the COVID-19 pandemic
por: Guckenberger, M., et al.
Publicado: (2021)

Collodion baby with polydactyly
por: Hassan, Iffat, et al.
Publicado: (2015)

Polydactyly MAS Classification
por: Althobaity, Adil Nasir, et al.
Publicado: (2018)

The effect of SNPs in lncRNA as ceRNA on the risk and prognosis of hepatocellular carcinoma
por: Mo, Han, et al.
Publicado: (2022)

Corrigendum to “Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy.” [Neurobiol. Aging 35 (2014) 1514.e1–1514.e12]
por: Ferrari, Raffaele, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_dhcvbabg4kuqgbsao3qmf4kt39