Ask about this productRelated genes to: HSD17B14 antibody
- Gene:
- HSD17B14 NIH gene
- Name:
- hydroxysteroid 17-beta dehydrogenase 14
- Previous symbol:
- DHRS10
- Synonyms:
- retSDR3, SDR47C1
- Chromosome:
- 19q13.33
- Locus Type:
- gene with protein product
- Date approved:
- 2003-12-02
- Date modifiied:
- 2016-06-03
Related products to: HSD17B14 antibody
Related articles to: HSD17B14 antibody
- Niemann-Pick disease, type C1 (NPC1), is a rare, fatal, neurodegenerative lysosomal disorder caused by pathological variants in NPC1. Defects in lysosomal cholesterol transport result in the accumulation of unesterified cholesterol within the endo-lysosomal compartments. Delayed diagnosis, limited treatment options, and phenotypic heterogeneity characterized by a broad range of signs/symptoms underscore the urgent need for effective biomarkers to facilitate diagnosis, monitor disease progression and assess therapeutic response. The goal of this study was to identify serum protein biomarkers for NPC1. - Source: PubMed
Publication date: 2026/05/09
Singhal KhushbooMenold Matthew TCawley Niamh XCampbell KierstenFarhat Nicole YAlexander DerekDale Ryan KPorter Forbes D - Niemann-Pick disease, type C1 (NPC1), is a rare, fatal, neurodegenerative lysosomal disorder caused by pathological variants in . Defects in lysosomal cholesterol transport result in the accumulation of unesterified cholesterol within the endo-lysosomal compartments. Delayed diagnosis, limited treatment options, and phenotypic heterogeneity characterized by a broad range of signs/symptoms underscore the urgent need for effective biomarkers to facilitate diagnosis, monitor disease progression and assess therapeutic response. The goal of this study was to identify serum protein biomarkers for NPC1. - Source: PubMed
Publication date: 2026/02/23
Singhal KhushbooMenold Matthew TCawley Niamh XCampbell KierstenFarhat Nicole YAlexander DerekDale Ryan KPorter Forbes D - Niemann-Pick disease, type C1 (NPC1), is a rare, fatal, neurodegenerative lysosomal disorder caused by pathological variants in . Defects in lysosomal cholesterol transport result in the accumulation of unesterified cholesterol within the endo-lysosomal compartments. Delayed diagnosis, limited treatment options, and phenotypic heterogeneity characterized by a broad range of signs/symptoms underscore the urgent need for effective biomarkers to facilitate diagnosis, monitor disease progression and assess therapeutic response. The goal of this study was to identify serum protein biomarkers for NPC1. - Source: PubMed
Publication date: 2026/01/18
Singhal KhushbooMenold Matthew TCawley Niamh XCampbell KierstenFarhat Nicole YAlexander DerekDale Ryan KPorter Forbes D - Steatotic liver disease (SLD) encompasses a group of disorders characterized by the excessive accumulation of fat in the liver. It is classified into four categories based on clinical manifestations: Metabolic dysfunction-associated SLD (MASLD), metabolic-alcohol-associated liver disease (ALD), ALD, and cryptogenic SLD. In the United States, its prevalence stands at 34.2%, making it the most common cause of cirrhosis and hepatocellular carcinoma (HCC). In addition to factors related to endocrine, nutrition, and medications, several genetic markers have been implicated in the disease's pathogenesis. Notable genes include , , , and . These genetic polymorphisms can significantly impact prognosis and disease outcomes. For example, is the most frequently associated gene with MASLD, increasing the risk of HCC by 12-fold and liver-related mortality by 18-fold. Furthermore, certain genetic markers are more prevalent in specific ethnic groups; for instance, is common among Hispanics, while is linked to higher fat content in African Americans. With a better understanding of the genetic factors involved in the pathogenesis of SLD, significant advancements have been made in diagnostics and therapeutics. This review explores the role of genetic factors in the disease's development, discusses current advancements in non-invasive diagnostic modalities, and examines therapeutic improvements based on these genetic insights to achieve better outcomes. - Source: PubMed
Kumar GaneshShah Yash RShahzad AbeerJameel KhadijaGuevara-Lazo DavidKhan Najia AliDahiya Dushyant SinghGangwani Manesh KumarRavichandran RakshanaPatel RaviHayat UmarThandassery Ragesh B - The incidence of metabolic dysfunction-associated steatotic liver disease (MASLD) has been escalating annually, positioning it as the leading cause of chronic liver disease worldwide. Ursolic acid has demonstrated promising therapeutic efficacy in managing MASLD, thereby justifying the need for an in-depth exploration of its pharmacological mechanisms. This study aimed to investigate elucidate the therapeutic mechanisms by which ursolic acid modulates estrogen conversion in the treatment of MASLD. - Source: PubMed
Publication date: 2025/03/10
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