Cargando…

PRTFDC1 Is a Genetic Modifier of HPRT-Deficiency in the Mouse

Lesch-Nyhan disease (LND) is a severe X-linked neurological disorder caused by a deficiency of hypoxanthine phosphoribosyltransferase (HPRT). In contrast, HPRT-deficiency in the mouse does not result in the profound phenotypes such as self-injurious behavior observed in humans, and the genetic basis...

Descripción completa

Detalles Bibliográficos
Autores principales:	Keebaugh, Alaine C., Mitchell, Heather A., Gaval-Cruz, Meriem, Freeman, Kimberly G., Edwards, Gaylen L., Weinshenker, David, Thomas, James W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3144895/ https://www.ncbi.nlm.nih.gov/pubmed/21818316 http://dx.doi.org/10.1371/journal.pone.0022381

Ejemplares similares

The renal phenotype of allopurinol-treated HPRT-deficient mouse
por: Zennaro, Cristina, et al.
Publicado: (2017)

Chronic Inhibition of Dopamine β-Hydroxylase Facilitates Behavioral Responses to Cocaine in Mice
por: Gaval-Cruz, Meriem, et al.
Publicado: (2012)

Knockdown of HPRT for Selection of Genetically Modified Human Hematopoietic Progenitor Cells
por: Choudhary, Rashmi, et al.
Publicado: (2013)

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
por: Torres, Rosa J, et al.
Publicado: (2007)

HPRT1 Deficiency Induces Alteration of Mitochondrial Energy Metabolism in the Brain
por: Vinokurov, Andrey Y., et al.
Publicado: (2023)

Generation of Hprt-disrupted rat through mouse←rat ES chimeras
por: Isotani, Ayako, et al.
Publicado: (2016)

A Trivalent Enzymatic System for Uricolytic Therapy of HPRT Deficiency and Lesch-Nyhan Disease
por: Ronda, Luca, et al.
Publicado: (2017)

Quantification and molecular characterization of hprt mutants of human T-lymphocytes.
por: Moore, M M, et al.
Publicado: (1993)

The Study on the Clinical Phenotype and Function of HPRT1 Gene
por: Guo, Miao, et al.
Publicado: (2022)

Activity in nodose ganglia neurons after treatment with CP 55,940 and cholecystokinin
por: Johnston, Juliane R., et al.
Publicado: (2018)

HPRT1 activity loss is associated with resistance to thiopurine in ALL
por: Yang, Fan, et al.
Publicado: (2017)

Genetic Influences on Receptive Joint Attention in Chimpanzees (Pan troglodytes)
por: Hopkins, William D., et al.
Publicado: (2014)

The HPRT short-term assay in monitoring individuals exposed to genotoxic agents.
por: Montero, R, et al.
Publicado: (1993)

Evolution of (p)ppGpp-HPRT regulation through diversification of an allosteric oligomeric interaction
por: Anderson, Brent W, et al.
Publicado: (2019)

Use of the HPRT gene to study nuclease-induced DNA double-strand break repair
por: Gravells, Polly, et al.
Publicado: (2015)

Personality in Chimpanzees (Pan troglodytes): Exploring the Hierarchical Structure and Associations with the Vasopressin V1A Receptor Gene
por: Latzman, Robert D., et al.
Publicado: (2014)

HPRT Mutations in Lymphocytes from 1,3-Butadiene-Exposed Workers in China
por: Liu, Shengxue, et al.
Publicado: (2008)

Enriching CRISPR-Cas9 targeted cells by co-targeting the HPRT gene
por: Liao, Shuren, et al.
Publicado: (2015)

HPRT Deficiency Coordinately Dysregulates Canonical Wnt and Presenilin-1 Signaling: A Neuro-Developmental Regulatory Role for a Housekeeping Gene?
por: Kang, Tae Hyuk, et al.
Publicado: (2011)

Description Kelley-Seegmiller syndrome (partial HPRT deficiency manifesting as a gout-urolithiasis syndrome) in a patient of 15 years old
por: Rodionovskaya, SR, et al.
Publicado: (2011)

hprt mutant lymphocyte frequencies in workers at a 1,3-butadiene production plant.
por: Ward, J B, et al.
Publicado: (1994)

In vitro analysis reveals necroptotic signaling does not provoke DNA damage or HPRT mutations
por: Miles, Mark A., et al.
Publicado: (2020)

Effects of Titanium Dioxide Nanoparticles on the Hprt Gene Mutations in V79 Hamster Cells
por: Kazimirova, Alena, et al.
Publicado: (2020)

Overexpression of HPRT1 is associated with poor prognosis in head and neck squamous cell carcinoma
por: Ahmadi, Mohsen, et al.
Publicado: (2021)

IMPDH2 and HPRT expression and a prognostic significance in preoperative and postoperative patients with osteosarcoma
por: Chaiyawat, Parunya, et al.
Publicado: (2021)

Identification of variables contributing to superovulation efficiency for production of transgenic prairie voles (Microtus ochrogaster)
por: Keebaugh, Alaine C, et al.
Publicado: (2012)

Correction: HPRT Deficiency Coordinately Dysregulates Canonical Wnt and Presenilin-1 Signaling: A Neuro-Developmental Regulatory Role for a Housekeeping Gene?
por: Kang, Tae Hyuk, et al.
Publicado: (2011)

HPRT-Deficiency Dysregulates cAMP-PKA Signaling and Phosphodiesterase 10A Expression: Mechanistic Insight and Potential Target for Lesch-Nyhan Disease?
por: Guibinga, Ghiabe-Henri, et al.
Publicado: (2013)

Hprt mutants in a transplantable murine tumour arise more frequently in vivo than in vitro.
por: Wilkinson, D., et al.
Publicado: (1995)

Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients
por: BOROUJERDI, Razieh, et al.
Publicado: (2015)

Impact of nanosilver on various DNA lesions and HPRT gene mutations – effects of charge and surface coating
por: Huk, Anna, et al.
Publicado: (2015)

Expression variation of OGG1 and HPRT gene and DNA damage in arsenic exposed industrial workers
por: Akram, Zertashia, et al.
Publicado: (2022)

Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
por: Kim, K. J., et al.
Publicado: (1997)

Qualitatively and quantitatively similar effects of active and passive maternal tobacco smoke exposure on in utero mutagenesis at the HPRT locus
por: Grant, Stephen G
Publicado: (2005)

Assessment of 1,3-butadiene exposure in polymer production workers using HPRT mutations in lymphocytes as a biomarker.
por: Ammenheuser, M M, et al.
Publicado: (2001)

Nitrate contamination of drinking water: relationship with HPRT variant frequency in lymphocyte DNA and urinary excretion of N-nitrosamines.
por: van Maanen, J M, et al.
Publicado: (1996)

Metabolism-Related Bioinformatics Analysis Reveals That HPRT1 Facilitates the Progression of Oral Squamous Cell Carcinoma In Vitro
por: Ye, Hengyu, et al.
Publicado: (2022)

Data supporting the design and evaluation of a universal primer pair for pseudogene-free amplification of HPRT1 in real-time PCR
por: Valadan, Reza, et al.
Publicado: (2015)

HPRT1 Most Suitable Reference Gene for Accurate Normalization of mRNA Expression in Canine Dermal Tissues with Radiation Therapy
por: Lee, Sang-Yun, et al.
Publicado: (2022)

Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndrome
por: AlBakheet, Albandary, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_lp3knaug1cnfobrmo1vmopkga4