29 May 2008
Med Sci Monit 2008; 14(6): RA78-86 :: ID: 859026
There are several genes known to be involved in simple renal or combined renal-extrarenal aberrations. Of these, the transcription factor 2 gene is expressed longer, from very early embryogenesis and throughout organ development during pregnancy. Transcription factor 2 gene encodes the hepatocyte nuclear factor-1 beta transcript, which is a member of the homeodomain-containing superfamily of transcription factors. Transcription factor 2 gene mutations may be associated with a wide variability in severity and pattern of clinical symptoms. Transcription factor 2 gene mutation may be responsible for approximately one-third of children having isolated renal cysts, multicystic dysplastic kidneys, oligomeganephronia, hypo-dysplastic kidneys, horseshoe kidneys, and hyperechogenic kidneys. The wide clinical presentation of hepatocyte nuclear factor-1 beta mutations suggests a broad role of this transcription factor throughout development. The complexity of phenotypes is quite interesting because it could depend on the vast expression time of this gene derangement during fetal development or on different gene-gene and gene-environmental interactions during different stages of embryogenesis. The current literature is reviewed concerning the malformations that have been associated with transcription factor 2 gene mutations involving primarily the kidneys and occurring both in an isolated form and in association with other defective organs to characterize the patterns of this genetic disease.
Keywords: Phenotype, Mutation - genetics, Kidney Diseases - pathology, Urologic Diseases - pathology, Hepatocyte Nuclear Factor 1-beta - genetics
12 September 2022 : EditorialEditorial: Treatment with Dual Incretin Receptor Agonists to Maintain Normal Glucose Levels May Also Maintain Normal Weight and Control Metabolic Dysfunction-Associated Fatty Liver Disease (MAFLD)
Med Sci Monit 2022; 28:e938365
16 September 2022 : Review articleEffects of Physiotherapy on Rehabilitation and Quality of Life in Patients Hospitalized for COVID-19: A Rev...
Med Sci Monit In Press; DOI: 10.12659/MSM.938141
12 September 2022 : Clinical ResearchEffect of Vitamin D Concentration on Course of COVID-19
Med Sci Monit In Press; DOI: 10.12659/MSM.937741
29 August 2022 : Database AnalysisTranscriptome Analysis of Peripheral Blood Mononuclear Cells Response in Patients with Severe COVID-19 Reve...
Med Sci Monit 2022; 28:e937532
26 Sep 2022 : Clinical ResearchDistribution and Determinants of Plasma Homocysteine Levels in a Preconception Population: A Retrospective ...
Med Sci Monit In Press; DOI: 10.12659/MSM.937987
26 Sep 2022 : Clinical ResearchLatency and Interpeak Interval Values of Auditory Brainstem Response in 73 Individuals with Normal Hearing
Med Sci Monit In Press; DOI: 10.12659/MSM.937847
23 Sep 2022 : Review articleA Review of the Role of Ultrasound Radiomics and Its Application and Limitations in the Investigation of Th...
Med Sci Monit In Press; DOI: 10.12659/MSM.937738
Most Viewed Current Articles
30 Dec 2021 : Clinical ResearchRetrospective Study of Outcomes and Hospitalization Rates of Patients in Italy with a Confirmed Diagnosis o...
Med Sci Monit 2021; 27:e935379
13 Nov 2021 : Clinical ResearchAcceptance of COVID-19 Vaccination and Its Associated Factors Among Cancer Patients Attending the Oncology ...
Med Sci Monit 2021; 27:e932788
08 Mar 2022 : Review articleA Review of the Potential Roles of Antioxidant and Anti-Inflammatory Pharmacological Approaches for the Man...
Med Sci Monit 2022; 28:e936292