Cargando…

Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature

Familial glucocorticoid deficiency type 1 (FGD1) is an autosomal recessive disorder caused by mutations in the melanocortin 2 receptor (MC2R) gene, characterized by a low or undetectable serum cortisol level and a high adrenocorticotropic hormone (ACTH) level. Clinical manifestations include hypogly...

Descripción completa

Detalles Bibliográficos
Autores principales:	Abuduxikuer, Kuerbanjiang, Li, Zhong-Die, Xie, Xin-Bao, Li, Yu-Chuan, Zhao, Jing, Wang, Jian-She
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563654/ https://www.ncbi.nlm.nih.gov/pubmed/31244773 http://dx.doi.org/10.3389/fendo.2019.00359

Ejemplares similares

Zinc Mono-Therapy in Pre-Symptomatic Chinese Children with Wilson Disease: A Single Center, Retrospective Study
por: Abuduxikuer, Kuerbanjiang, et al.
Publicado: (2014)

Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications
por: Abuduxikuer, Kuerbanjiang, et al.
Publicado: (2019)

Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature
por: Abuduxikuer, Kuerbanjiang, et al.
Publicado: (2018)

A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report
por: Liu, ShuPing, et al.
Publicado: (2023)

Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features
por: Abuduxikuer, Kuerbanjiang, et al.
Publicado: (2021)

The melanocortin receptors and their accessory proteins
por: Ramachandrappa, Shwetha, et al.
Publicado: (2013)

Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency
por: Wang, Neng-Li, et al.
Publicado: (2022)

Pharmacological Evaluation of Melanocortin 2 Receptor Accessory Protein 2 on Axolotl Neural Melanocortin Signaling
por: Wang, Xiaozhu, et al.
Publicado: (2022)

Melanocortin Regulation of Inflammation
por: Wang, Wei, et al.
Publicado: (2019)

Development of the Hypothalamic Melanocortin System
por: Coupe, Berengere, et al.
Publicado: (2013)

Glucocorticoid and Melanocortins: Special Issue
por: Getting, Stephen J.
Publicado: (2007)

A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report
por: Li, Jia-Qi, et al.
Publicado: (2018)

Weight and Glycemic Control Outcomes of Bariatric Surgery and Pharmacotherapy in Patients With Melanocortin-4 Receptor Deficiency
por: Fojas, Esphie Grace Fodra, et al.
Publicado: (2022)

UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlation
por: Abuduxikuer, Kuerbanjiang, et al.
Publicado: (2018)

TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy
por: Fang, Yuan, et al.
Publicado: (2022)

Melanocortin receptor accessory proteins in adrenal disease and obesity
por: Jackson, David S., et al.
Publicado: (2015)

Melanocortin Systems on Pigment Dispersion in Fish Chromatophores
por: Kobayashi, Yuki, et al.
Publicado: (2012)

Regulation of Melanocortin-4 Receptor Pharmacology by Two Isoforms of Melanocortin Receptor Accessory Protein 2 in Topmouth Culter (Culter alburnus)
por: Tao, Min, et al.
Publicado: (2020)

The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency
por: Wang, Neng-Li, et al.
Publicado: (2016)

Heterozygous Genetic Variants in Autosomal Recessive Genes of the Leptin-Melanocortin Signalling Pathway Are Associated With the Development of Childhood Obesity
por: Šket, Robert, et al.
Publicado: (2022)

Description of the molecular and phenotypic spectrum in Chinese patients with aggrecan deficiency: Novel ACAN heterozygous variants in eight Chinese children and a review of the literature
por: Deng, Shuyun, et al.
Publicado: (2022)

Novel HYDIN variants associated with male infertility in two Chinese families
por: Yu, Hui, et al.
Publicado: (2023)

Neonatal sclerosing cholangitis with novel mutations in DCDC2 (doublecortin domain-containing protein 2) in Chinese children
por: Wei, Xia, et al.
Publicado: (2023)

A Novel Phenotype of Germline Pathogenic Variants in MAX: Concurrence of Pheochromocytoma and Ganglioneuroma in a Chinese Family and Literature Review
por: Chang, Xiaoyan, et al.
Publicado: (2020)

Plasticity of the Melanocortin System: Determinants and Possible Consequences on Food Intake
por: Nuzzaci, Danaé, et al.
Publicado: (2015)

Dual Topology of the Melanocortin-2 Receptor Accessory Protein Is Stable
por: Maben, Zachary J., et al.
Publicado: (2016)

Pharmacological Modulation of Melanocortin 1 Receptor Signaling by Mrap Proteins in Xenopus tropicalis
por: Tai, Xiaolu, et al.
Publicado: (2022)

Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein
por: Jain, V, et al.
Publicado: (2011)

Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports
por: Abuduxikuer, Kuerbanjiang, et al.
Publicado: (2022)

A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features
por: Zhang, Yan, et al.
Publicado: (2020)

The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis
por: Wang, Neng-Li, et al.
Publicado: (2022)

Ring Finger Protein 11 Inhibits Melanocortin 3 and 4 Receptor Signaling
por: Müller, Anne, et al.
Publicado: (2016)

Signal Transduction and Pathogenic Modifications at the Melanocortin-4 Receptor: A Structural Perspective
por: Heyder, Nicolas, et al.
Publicado: (2019)

Sensing Glucose in the Central Melanocortin Circuits of Rainbow Trout: A Morphological Study
por: Otero-Rodiño, Cristina, et al.
Publicado: (2019)

Dimerization of melanocortin 4 receptor controls puberty onset and body size polymorphism
por: Liu, Ruiqi, et al.
Publicado: (2023)

Melanocortin-4 Receptor in Spotted Sea Bass, Lateolabrax maculatus: Cloning, Tissue Distribution, Physiology, and Pharmacology
por: Zhang, Kai-Qiang, et al.
Publicado: (2019)

Agouti-related protein as the glucose signaling sensor in the central melanocortin circuits in regulating fish food intake
por: Han, Juan, et al.
Publicado: (2022)

A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene
por: Fang, Weiyuan, et al.
Publicado: (2017)

L-Cell Expression of Melanocortin-4-Receptor Is Marginal in Most of the Small Intestine in Mice and Humans and Direct Stimulation of Small Intestinal Melanocortin-4-Receptors in Mice and Rats Does Not Affect GLP-1 Secretion
por: Kuhre, Rune E., et al.
Publicado: (2021)

Hypothesis and Theory: Evaluating the Co-Evolution of the Melanocortin-2 Receptor and the Accessory Protein MRAP1
por: Dores, Robert M., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_j06k4so4cftmruoe98e1acgtma