Cargando…

A cell function study on calcium regulation of a novel calcium-sensing receptor mutation (p.Tyr825Phe)

PURPOSE: Autosomal dominant hypocalcemia with hypercalciuria is a genetic disease characterized by hypoparathyroidism with hypercalciuria. We discovered a novel variant (p.Tyr825Phe[Y825F]) of the <i>CASR</i> gene in a neonate with congenital hypoparathyroidism and hypercalciuria and con...

Descripción completa

Detalles Bibliográficos
Autores principales:	Moon, Jung Eun, Yang, Hee-Young, Wee, Gabbine, ParK, Suk-Hyun, Ko, Cheol Woo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Society of Pediatric Endocrinology 2021
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8026336/ https://www.ncbi.nlm.nih.gov/pubmed/32871647 http://dx.doi.org/10.6065/apem.2040022.011

Ejemplares similares

Case analysis of early-onset Alzheimer's disease associated with TBK1 p.Tyr235Phe gene mutation
por: Li, Pan, et al.
Publicado: (2022)

Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)
por: Skorczyk-Werner, Anna, et al.
Publicado: (2015)

Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt–Jakob disease
por: Bagyinszky, Eva, et al.
Publicado: (2019)

A de novo Non-sense Nuclear Factor I B Mutation (p.Tyr290*) Is Responsible for Brain Malformation and Lung Lobulation Defects
por: Huang, Hao, et al.
Publicado: (2022)

Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility
por: Koivuluoma, Susanna, et al.
Publicado: (2022)

Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation
por: Riboldi, Giulietta, et al.
Publicado: (2011)

Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family with Episodic Ataxia 2
por: Hu, Yafang, et al.
Publicado: (2013)

17α-hydroxylase/17,20 carbon chain lyase deficiency caused by p.Tyr329fs homozygous mutation: Three case reports
por: Zhang, Dai, et al.
Publicado: (2021)

Ocular Manifestations in a Chinese Pedigree of Familial Amyloidotic Polyneuropathy Carrying the Transthyretin Mutation c.401A>G (p.Tyr134Cys)
por: Zhuang, Xiaonan, et al.
Publicado: (2022)

The most frequent ABCA3 nonsense mutation -p.Tyr1515* (Y1515X) causing lethal neonatal respiratory failure in a term neonate
por: AlAnazi, AlNashmi, et al.
Publicado: (2017)

Congenital factor V deficiency in Taiwan: identification of a novel variant p.Tyr1813(∗) and two variants specific to East Asians
por: Lin, Hsuan-Yu, et al.
Publicado: (2023)

Role of Ca(2+) and L-Phe in Regulating Functional Cooperativity of Disease-Associated “Toggle” Calcium-Sensing Receptor Mutations
por: Zhang, Chen, et al.
Publicado: (2014)

Dramatic inhibition of osteoclast sealing ring formation and bone resorption in vitro by a WASP-peptide containing pTyr294 amino acid
por: Ma, Tao, et al.
Publicado: (2008)

pTyr(421) Cortactin Is Overexpressed in Colon Cancer and Is Dephosphorylated by Curcumin: Involvement of Non-Receptor Type 1 Protein Tyrosine Phosphatase (PTPN1)
por: Radhakrishnan, Vijayababu M., et al.
Publicado: (2014)

The mechanism (Phe362Tyr mutation) behind resistance in Lepeophtheirus salmonis pre-dates organophosphate use in salmon farming
por: Kaur, Kiranpreet, et al.
Publicado: (2017)

A novel KCNQ4 gene variant (c.857A>G; p.Tyr286Cys) in an extended family with non-syndromic deafness 2A
por: Li, Qiong, et al.
Publicado: (2021)

Comparisons of Interfacial Phe, Tyr, and Trp Residues as Determinants of Orientation and Dynamics for GWALP Transmembrane Peptides
por: Sparks, Kelsey A., et al.
Publicado: (2014)

The Phe362Tyr mutation conveying resistance to organophosphates occurs in high frequencies in salmon lice collected from wild salmon and trout
por: Fjørtoft, Helene Børretzen, et al.
Publicado: (2017)

Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk
por: Rocque, Mariève J., et al.
Publicado: (2023)

Phe362Tyr in AChE: A Major Factor Responsible for Azamethiphos Resistance in Lepeophtheirus salmonis in Norway
por: Kaur, Kiranpreet, et al.
Publicado: (2016)

2′,6′-Dimethylphenylalanine: A Useful Aromatic Amino Acid Surrogate for Tyr or Phe Residue in Opioid Peptides
por: Sasaki, Yusuke, et al.
Publicado: (2012)

Synthesis, Antiproliferative Effect and In Silico LogP Prediction of BIM-23052 Analogs Containing Tyr Instead of Phe
por: Danalev, Dancho, et al.
Publicado: (2023)

High Concentration of Protein Oxidation Biomarker O-Tyr/Phe Predicts Better Outcome in Childhood Bacterial Meningitis
por: Rugemalira, Emilie, et al.
Publicado: (2023)

Kallmann syndrome with a Tyr113His PROKR2 mutation
por: Ha, Jeong-Ha, et al.
Publicado: (2017)

Temperature sensing by the calcium-sensing receptor
por: Brennan, Sarah C., et al.
Publicado: (2023)

Substrate Specifity Profiling of the Aspergillus fumigatus Proteolytic Secretome Reveals Consensus Motifs with Predominance of Ile/Leu and Phe/Tyr
por: Watson, Douglas S., et al.
Publicado: (2011)

Peptide Probes with Aromatic Residues Tyr and Phe at the X Position Show High Specificity for Targeting Denatured Collagen in Tissues
por: Wei, Wenyu, et al.
Publicado: (2020)

Capacitative calcium entry: sensing the calcium stores
por: Putney, James W.
Publicado: (2005)

Calcium-sensing receptor and calcium kidney stones
por: Vezzoli, Giuseppe, et al.
Publicado: (2011)

Design of Calcium-Binding Proteins to Sense Calcium
por: Tang, Shen, et al.
Publicado: (2020)

Calcium Homeostasis and Disorders of the Calcium-Sensing Receptor
por: Pearce, Simon H S
Publicado: (1998)

A Case Report of Familial Benign Hypocalciuric Hypercalcemia: A Mutation in the Calcium-Sensing Receptor Gene
por: Woo, Seong Ill, et al.
Publicado: (2006)

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)

Coexistence of a Calcium-Sensing Receptor Mutation and Primary Hyperparathyroidism
por: Russell, Peyton, et al.
Publicado: (2023)

68Ga-DOTA-D Phe1-Tyr3-Octreotide (DOTATOC)-PET/CT in a Suspected Case of Recurrent Meningioma
por: Jain, Sachin, et al.
Publicado: (2017)

HR-TEM and FT-Raman dataset of the caffeine interacted Phe–Phe peptide nanotube for possible sensing applications
por: Narayanan, A. Lakshmi, et al.
Publicado: (2017)

The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report
por: Szczawińska-Popłonyk, Aleksandra, et al.
Publicado: (2023)

Difficult diagnosis and localization of focal nesidioblastosis: clinical implications of (68)Gallium-DOTA-D-Phe(1)-Tyr(3)-octreotide PET scanning
por: Kim, Jae Ri, et al.
Publicado: (2016)

Calcium Oxalate Induces Renal Injury through Calcium-Sensing Receptor
por: Li, Xiaoran, et al.
Publicado: (2016)

Importance of Solvent-Bridged Structures of Fluorinated Diphenylalanines: Synthesis, Detailed NMR Analysis, and Rotational Profiles of Phe(2-F)-Phe(2-F), Phe(2-F)-Phe, and Phe-Phe(2-F)
por: Yang, Kaidi, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_6g6qrikct8b3pm6ke5u8ul56vd