Cystathionine β-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children

Cystathionine β-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children

<p>Abstract</p> <p>Background</p> <p>Cystathionine β-synthase (CBS) mediates conversion of homocysteine to cystathionine and deficiency in enzyme activity may lead to hyperhomocysteinemia/homocystinuria, which are often associated with mental retardation (MR). A large n...

Full description

Bibliographic Details
Main Authors:	Mukhopadhyay Jotideb, Gangopadhyay Prasanta, Chattopadhyay Anindita, Sinha Swagata, Dutta Samikshan, Singh Manoranjan, Mukhopadhyay Kanchan
Format:	Article
Language:	English
Published:	BMC 2005-12-01
Series:	Behavioral and Brain Functions
Online Access:	http://www.behavioralandbrainfunctions.com/content/1/1/25

Similar Items

Freqüência da mutação 844ins68 do gene da cistationina beta-sintetase em pacientes com trombose venosa profunda Frequency of the 844ins68 mutation on the cystathionine beta-synthetase gene in deep venous thrombosis patients
by: Claudia R. Bonini-Domingos, et al.
Published: (2005-03-01)

Association between CBS gene T833C, G919A and 844ins68 polymorphisms in the 8th exon region and coronary artery disease: a meta-analysis
by: Zijiang Zhu, et al.
Published: (2024-12-01)

Architecture and regulation of filamentous human cystathionine beta-synthase
by: Thomas J. McCorvie, et al.
Published: (2024-04-01)

Cystathionine-β-synthase: Molecular Regulation and Pharmacological Inhibition
by: Karim Zuhra, et al.
Published: (2020-04-01)

Cystathionine β-Synthase Is Necessary for Axis Development in Vivo
by: Shubhangi Prabhudesai, et al.
Published: (2018-02-01)

Enhanced expression of cystathionine β-synthase and cystathionine γ-lyase during acute cholecystitis-induced gallbladder inflammation.
by: Li Zhang, et al.
Published: (2013-01-01)

Expression of cystathionine β-synthase and cystathionine γ-lyase in human pregnant myometrium and their roles in the control of uterine contractility.
by: Xing-Ji You, et al.
Published: (2011-01-01)

Metabotropic glutamate receptor genetic variants and peripheral receptor expression affects trait scores of autistic probands
by: Nilanjana Dutta, et al.
Published: (2024-04-01)

Kainate receptor subunit 1 (GRIK1) risk variants and GRIK1 deficiency were detected in the Indian ADHD probands
by: Mahasweta Chatterjee, et al.
Published: (2022-11-01)

Brain phenotype of transgenic mice overexpressing cystathionine β-synthase.
by: Vinciane Régnier, et al.
Published: (2012-01-01)

Emerging roles of cystathionine β-synthase in various forms of cancer
by: Kelly Ascenção, et al.
Published: (2022-07-01)

Heme-Thiolate Perturbation in Cystathionine β‑Synthase by Mercury Compounds
by: Dayana Benchoam, et al.
Published: (2021-01-01)

Cystathionine beta-synthase deficiency causes fat loss in mice.
by: Sapna Gupta, et al.
Published: (2011-01-01)

Corrigendum: Cystathionine β-Synthase Is Necessary for Axis Development in vivo
by: Shubhangi Prabhudesai, et al.
Published: (2018-09-01)

Domain organization, catalysis and regulation of eukaryotic cystathionine beta-synthases.
by: Tomas Majtan, et al.
Published: (2014-01-01)

H2S and homocysteine control a novel feedback regulation of cystathionine beta synthase and cystathionine gamma lyase in cardiomyocytes
by: Shyam Sundar Nandi, et al.
Published: (2017-06-01)

Potential contribution of SIM2 and ETS2 functional polymorphisms in Down syndrome associated malignancies
by: Chatterjee Arpita, et al.
Published: (2013-01-01)

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase
by: Song Sun, et al.
Published: (2020-01-01)

A pioneering study indicate role of GABRQ rs3810651 in ASD severity of Indo-Caucasoid female probands
by: Sharmistha Saha, et al.
Published: (2021-03-01)

Cyclin-dependent Kinase 5: Novel role of gene variants identified in ADHD
by: Subhamita Maitra, et al.
Published: (2017-07-01)

3-Mercaptopyruvate Sulfurtransferase, Not Cystathionine β-Synthase Nor Cystathionine γ-Lyase, Mediates Hypoxia-Induced Migration of Vascular Endothelial Cells
by: Beibei Tao, et al.
Published: (2017-09-01)

Glutamate receptor genetic variants affected peripheral glutamatergic transmission and treatment induced improvement of Indian ADHD probands
by: Mahasweta Chatterjee, et al.
Published: (2023-11-01)

Identification of 8-Hydroxyquinoline Derivatives That Decrease Cystathionine Beta Synthase (CBS) Activity
by: Pierre Conan, et al.
Published: (2022-06-01)

Sulfurtransferases and Cystathionine Beta-Synthase Expression in Different Human Leukemia Cell Lines
by: Halina Jurkowska, et al.
Published: (2022-01-01)

An eQTL in the cystathionine beta synthase gene is linked to osteoporosis in laying hens
by: Dirk-Jan De Koning, et al.
Published: (2020-02-01)

Nitrite reductase activity and inhibition of H₂S biogenesis by human cystathionine ß-synthase.
by: Carmen Gherasim, et al.
Published: (2014-01-01)

Cystathionine β-synthase affects organization of cytoskeleton and modulates carcinogenesis in colorectal carcinoma cells
by: Veronika Liskova, et al.
Published: (2023-07-01)

Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency
by: Ning Hua, et al.
Published: (2021-05-01)

Frequent epigenetic silencing of the folate-metabolising gene cystathionine-beta-synthase in gastrointestinal cancer.
by: Hong Zhao, et al.
Published: (2012-01-01)

Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization
by: Elena Voskoboeva, et al.
Published: (2018-03-01)

Cystathionine beta-synthase (CBS) contributes to advanced ovarian cancer progression and drug resistance.
by: Sanjib Bhattacharyya, et al.
Published: (2013-01-01)

Blockade of the trans-sulfuration pathway in acute pancreatitis due to nitration of cystathionine β-synthase
by: Sergio Rius-Pérez, et al.
Published: (2020-01-01)

Folate gene polymorphisms CBS 844ins68 and RFC1 A80G and risk of Down syndrome offspring in young Iranian women: A cross-sectional study
by: Neda Farajnezhad, et al.
Published: (2024-03-01)

Examination of two different proteasome inhibitors in reactivating mutant human cystathionine β-synthase in mice.
by: Sapna Gupta, et al.
Published: (2023-01-01)

A role for the cystathionine-β-synthase /H2S axis in astrocyte dysfunction in the aging brain
by: Anindya Dey, et al.
Published: (2023-12-01)

Loss of the Protein Cystathionine β-Synthase During Kidney Injury Promotes Renal Tubulointerstitial Fibrosis
by: Xiangning Yuan, et al.
Published: (2017-07-01)

Inhibition of cystathionine β-synthase promotes apoptosis and reduces cell proliferation in chronic myeloid leukemia
by: Dan Wang, et al.
Published: (2021-02-01)

Hydrogen sulfide intervention in cystathionine-β-synthase mutant mouse helps restore ocular homeostasis
by: Akash K. George, et al.
Published: (2019-05-01)

Dual targeting of H2S synthesizing enzymes; cystathionine β-synthase and cystathionine γ-lyase by miR-939-5p effectively curbs triple negative breast cancer
by: Heba Nafea, et al.
Published: (2023-10-01)

Insights into Domain Organization and Regulatory Mechanism of Cystathionine Beta-Synthase from <i>Toxoplasma gondii</i>
by: Carolina Conter, et al.
Published: (2022-07-01)