Cargando…

A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype

BACKGROUND: Many genetic variations of GALK1 have been identified in the patients with galactokinase (GALK1) deficiency. However, the molecular characteristics of GALK1 in individuals with elevated GALK1 activity are relatively unknown. METHODS: We investigated the relationship between elevated GALK...

Descripción completa

Detalles Bibliográficos
Autores principales:	Park, Hyung-Doo, Kim, Yoon-Kyoung, Park, Kyoung Un, Kim, Jin Q, Song, Young-Han, Song, Junghan
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2009
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2667498/ https://www.ncbi.nlm.nih.gov/pubmed/19309526 http://dx.doi.org/10.1186/1471-2350-10-29

Ejemplares similares

Sugar recognition by human galactokinase
por: Timson, David J, et al.
Publicado: (2003)

[(13)C]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis
por: Ficicioglu, Can, et al.
Publicado: (2021)

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1
por: Yasmeen, Afshan, et al.
Publicado: (2010)

Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Measurement of Leukocyte Arylsulfatase A Activity Using a Natural Substrate
por: Han, Minje, et al.
Publicado: (2015)

Galactokinase deficiency: lessons from the GalNet registry
por: Rubio-Gozalbo, M. Estela, et al.
Publicado: (2020)

Simple and highly efficient BAC recombineering using galK selection
por: Warming, Søren, et al.
Publicado: (2005)

Identification of Compound Heterozygous Mutation in a Korean Patient with Alpha 1-antitrypsin Deficiency
por: Ko, Dae-Hyun, et al.
Publicado: (2011)

Comparative modeling and genomics for galactokinase (Gal1p) enzyme
por: Sharma, Ashwani, et al.
Publicado: (2011)

Significance of Lewis Phenotyping Using Saliva and Gastric Tissue: Comparison with the Lewis Phenotype Inferred from Lewis and Secretor Genotypes
por: Hong, Yun Ji, et al.
Publicado: (2014)

Use of Tandem Mass Spectrometry for Newborn Screening of 6 Lysosomal Storage Disorders in a Korean Population
por: Han, Minje, et al.
Publicado: (2011)

Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing
por: Choi, Rihwa, et al.
Publicado: (2017)

First Korean Case of Robinsoniella peoriensis Bacteremia in a Patient with Aspiration Pneumonia
por: Jeon, Yongbum, et al.
Publicado: (2012)

Integrated transcriptome analysis identifies APPL1/RPS6KB2/GALK1 as immune-related metastasis factors in breast cancer
por: Chen, Gang, et al.
Publicado: (2023)

PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations
por: Choi, Rihwa, et al.
Publicado: (2016)

Expression, purification, crystallization and preliminary X-ray diffraction analysis of galactokinase from Pyrococcus horikoshii. Erratum
por: Inagaki, Eiji, et al.
Publicado: (2006)

Fragment Screening Reveals Starting Points for Rational Design of Galactokinase 1 Inhibitors to Treat Classic Galactosemia
por: Mackinnon, Sabrina R., et al.
Publicado: (2021)

Hereditary protein C deficiency with recurrent thrombosis: identification of a missense mutation (C6218T).
por: Song, K. S., et al.
Publicado: (1998)

A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy
por: Lee, Seung Hoon, et al.
Publicado: (2020)

Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity
por: Choi, Rihwa, et al.
Publicado: (2014)

Estudio de la participación de la mutación tIF2 sobre la expresión del gen reportero galk
por: Pastrana Cruz, Roberto
Publicado: (1997)

A Novel Mutation (c.200T>C) in the NAGLU Gene of a Korean Patient with Mucopolysaccharidosis IIIB
por: Kim, Young-Eun, et al.
Publicado: (2013)

A Review of Haptoglobin Typing Methods for Disease Association Study and Preventing Anaphylactic Transfusion Reaction
por: Ko, Dae-Hyun, et al.
Publicado: (2013)

Significance of “Not Detected but Amplified” Results by Real-Time PCR Method for HPV DNA Detection
por: Kim, Taek Soo, et al.
Publicado: (2016)

Detection of Herpes Simplex and Varicella-Zoster Virus in Clinical Specimens by Multiplex Real-Time PCR and Melting Curve Analysis
por: Hong, Yun Ji, et al.
Publicado: (2014)

DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population
por: Park, Kyoung-Jin, et al.
Publicado: (2016)

Accurate and Rapid Measurement of Glycated Hemoglobin Using HLC-723 G11 Variant Mode
por: Park, Min-Seung, et al.
Publicado: (2019)

A Case of Imported Plasmodium malariae Malaria
por: Hong, Yun Ji, et al.
Publicado: (2012)

Proteomics Profiling of Bladder Cancer Tissues from Early to Advanced Stages Reveals NNMT and GALK1 as Biomarkers for Early Detection and Prognosis of BCa
por: Davalieva, Katarina, et al.
Publicado: (2023)

Usefulness of Multiplex Real-Time PCR for Simultaneous Pathogen Detection and Resistance Profiling of Staphylococcal Bacteremia
por: Chung, Yousun, et al.
Publicado: (2016)

Multiplex Assay of Second-Line Anti-Tuberculosis Drugs in Dried Blood Spots Using Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry
por: Lee, Kyunghoon, et al.
Publicado: (2016)

Molecular Characteristics of the Serological Weak D Phenotype in Koreans
por: Jeong, Dajeong, et al.
Publicado: (2021)

Pulmonary Infection Caused by Mycobacterium conceptionense
por: Kim, Seon Young, et al.
Publicado: (2012)

THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES : A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT
por: Robinson, Arthur
Publicado: (1963)

THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES : A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT
por: Robinson, Arthur
Publicado: (1963)

c-Met-Specific Chimeric Antigen Receptor T Cells Demonstrate Anti-Tumor Effect in c-Met Positive Gastric Cancer
por: Kang, Chung Hyo, et al.
Publicado: (2021)

Human Platelet Antigen Genotyping and Expression of CD109 (Human Platelet Antigen 15) mRNA in Various Human Cell Types
por: Hwang, Sang Mee, et al.
Publicado: (2013)

Novel c-Met inhibitor suppresses the growth of c-Met-addicted gastric cancer cells
por: Park, Chi Hoon, et al.
Publicado: (2016)

CYP21A2 Mutation Analysis in Korean Patients With Congenital Adrenal Hyperplasia Using Complementary Methods: Sequencing After Long-Range PCR and Restriction Fragment Length Polymorphism Analysis With Multiple Ligation-Dependent Probe Amplification Assay
por: Hong, Geehay, et al.
Publicado: (2015)

Comparison of the MicroScan, VITEK 2, and Crystal GP with 16S rRNA sequencing and MicroSeq 500 v2.0 analysis for coagulase-negative Staphylococci
por: Kim, Miyoung, et al.
Publicado: (2008)

Comparison of xTAG Respiratory Virus Panel and Verigene Respiratory Virus Plus for Detecting Influenza Virus and Respiratory Syncytial Virus
por: Hwang, Sang Mee, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_blgqvcpub6mk857dfhnuahu0mo