Cargando…

Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1

Detalles Bibliográficos
Autores principales:	Jang, Mi-Ae, Kim, Ok-Hwa, Kim, Sun Wook, Ki, Chang-Seok
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Society for Laboratory Medicine 2015
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390715/ https://www.ncbi.nlm.nih.gov/pubmed/25932455 http://dx.doi.org/10.3343/alm.2015.35.3.387

Ejemplares similares

Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea
por: Heo, Ju Sun, et al.
Publicado: (2017)

A novel CASR mutation (p.Glu757Lys) causing autosomal dominant hypocalcaemia type 1
por: Kwan, Benjamin, et al.
Publicado: (2018)

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

Novel Pathogenic PRSS1 Variant p.Glu190Lys in a Case of Chronic Pancreatitis
por: Jancsó, Zsanett, et al.
Publicado: (2019)

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

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa
por: Azam, Maleeha, et al.
Publicado: (2009)

Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene
por: Goursaud, Claire, et al.
Publicado: (2018)

Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys
por: Potrč, Maja, et al.
Publicado: (2021)

A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A
por: Torella, Annalaura, et al.
Publicado: (2023)

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

The MKK7 p.Glu116Lys Rare Variant Serves as a Predictor for Lung Cancer Risk and Prognosis in Chinese
por: Qiu, Fuman, et al.
Publicado: (2016)

Identification of a GDF5 Mutation in a Korean Patient with Brachydactyly Type C without Foot Involvement
por: Seo, Soo Hyun, et al.
Publicado: (2013)

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

Case Report: Brachydactyly Type A1 Induced by a Novel Variant of in-Frame Insertion in the IHH Gene
por: Zeng, Feier, et al.
Publicado: (2022)

A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease
por: Waheed, Nadia K., et al.
Publicado: (2012)

Expression of a triple mutational des‐pGlu brazzein in transgenic mouse milk
por: Lu, Rui, et al.
Publicado: (2022)

The GDAP1 p.Glu222Lys Variant-Weak Pathogenic Effect, Cumulative Effect of Weak Sequence Variants, or Synergy of Both Factors?
por: Kabzińska, Dagmara, et al.
Publicado: (2022)

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

An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene
por: Huang, Wei, et al.
Publicado: (2019)

SAT-340 Familial Hypocalciuric Hypercalcemia Due to a C.571G>A (p.Glu191Lys) Variant in the GNA11 Gene
por: Jeng, Henry Shiheng, et al.
Publicado: (2020)

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

Case Report: Developmental Delay and Acute Neuropsychiatric Episodes Associated With a de novo Mutation in the CAMK2B Gene (c.328G>A p.Glu110Lys)
por: Dwyer, Bonnie K., et al.
Publicado: (2022)

The Antagonist pGlu-βGlu-Pro-NH(2) Binds to an Allosteric Site of the Thyrotropin-Releasing Hormone Receptor
por: De La Cruz, Daniel L., et al.
Publicado: (2021)

Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals
por: Jang, Mi-Ae, et al.
Publicado: (2015)

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)

Case report: p.Glu134del SOD1 mutation in two apparently unrelated ALS patients with mirrored phenotype
por: Gianferrari, Giulia, et al.
Publicado: (2023)

Different phenotypes of transthyretin-associated familial amyloid polyneuropathy due to a mutation in p.Glu109Gln in members of the same family
por: Erdogan, Cagdas, et al.
Publicado: (2021)

Association of a Missense ALDH2 Single Nucleotide Polymorphism (Glu504Lys) With Benign Prostate Hyperplasia in a Korean Population
por: Seok, Hosik, et al.
Publicado: (2013)

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)

MMP-8 C-799 T, Lys460Thr, and Lys87Glu variants are not related to risk of cancer
por: Zhang, Li-Feng, et al.
Publicado: (2019)

Severe FMF Presentation with Rare Association of MEFV Variants (p.Pro369Ser/p.Glu148Gln)
por: El Alaoui, Kenza, et al.
Publicado: (2019)

The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease
por: Yang, Juan, et al.
Publicado: (2021)

Immunohistochemical Demonstration of the pGlu79 α-Synuclein Fragment in Alzheimer’s Disease and Its Tg2576 Mouse Model
por: Bluhm, Alexandra, et al.
Publicado: (2022)

Li–Fraumeni-associated pancreatic neuroendocrine tumour and XAF1 p.Glu134Ter risk modifier variant
por: Riechelmann, Rachel P, et al.
Publicado: (2022)

A woman with a rare p.Glu74Gly transthyretin mutation presenting exclusively with a rapidly progressive neuropathy: a case report
por: Schänzer, Anne, et al.
Publicado: (2014)

Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus
por: Petrova, N. V., et al.
Publicado: (2019)

Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]
por: Bouazzi, Habib, et al.
Publicado: (2015)

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

Origin and Spread of the ALDH2 Glu504Lys Allele
por: Zhang, Xiaokai, et al.
Publicado: (2021)

Glutaminyl cyclase contributes to the formation of focal and diffuse pyroglutamate (pGlu)-Aβ deposits in hippocampus via distinct cellular mechanisms
por: Hartlage-Rübsamen, Maike, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_vn4kng6u4flbn4dftq2qjbp0hd