| Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families. | Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.
Idyahia A, Redouan S, Amalou G, Charoute H, Harmak H, Bonnet C, Petit C, Benrahma H, Barakat A. | 07/26/2024 |
| HSD17B4 methylation enhances glucose dependence of BT-474 breast cancer cells and increases lapatinib sensitivity. | HSD17B4 methylation enhances glucose dependence of BT-474 breast cancer cells and increases lapatinib sensitivity.
Arai N, Hattori N, Yamashita S, Liu YY, Ebata T, Takeuchi C, Takeshima H, Fujii S, Kondo H, Mukai H, Ushijima T. | 07/25/2023 |
| The Peroxisomal Localization of Hsd17b4 Is Regulated by Its Interaction with Phosphatidylserine. | The Peroxisomal Localization of Hsd17b4 Is Regulated by Its Interaction with Phosphatidylserine.
Lee SA, Lee J, Kim K, Moon H, Min C, Moon B, Kim D, Yang S, Park H, Lee G, Park R, Park D., Free PMC Article | 12/4/2021 |
| Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis. | Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis.
Savage L, Adams SD, James K, Chowdhury S, Rajasekaran S, Prokop JW, Bupp C., Free PMC Article | 09/18/2021 |
| Acetylation-mediated degradation of HSD17B4 regulates the progression of prostate cancer. | Acetylation-mediated degradation of HSD17B4 regulates the progression of prostate cancer.
Huang H, Liu R, Huang Y, Feng Y, Fu Y, Chen L, Chen Z, Cai Y, Zhang Y, Chen Y., Free PMC Article | 03/27/2021 |
| In HEK293 cells, the D-bifunctional protein (HSD17B4) and the peroxisomal ABC transporter ABCD3 are essential in peroxisomal oxidation of lauric and palmitic acid. | Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4.
Violante S, Achetib N, van Roermund CWT, Hagen J, Dodatko T, Vaz FM, Waterham HR, Chen H, Baes M, Yu C, Argmann CA, Houten SM., Free PMC Article | 05/16/2020 |
| HSD17B4 overexpression increased STAT3 activation. | 17β‑hydroxysteroid dehydrogenase 4 induces liver cancer proliferation‑associated genes via STAT3 activation.
Lu X, Kong L, Wang X, Liu W, Ma P, Jiang L. | 03/9/2019 |
| This study reveals a crosstalk between acetylation and chaperone-mediated autophagy degradation in HSD17B4 regulation. | Acetylation targets HSD17B4 for degradation via the CMA pathway in response to estrone.
Zhang Y, Xu YY, Yao CB, Li JT, Zhao XN, Yang HB, Zhang M, Yin M, Chen J, Lei QY., Free PMC Article | 11/25/2017 |
| we identified that methylation of the promoter CpG island of HSD17B4 was associated with the pathological complete response of HER2-positive breast cancer to trastuzumab and chemotherapy with a specificity of 79% | Pathological complete response of HER2-positive breast cancer to trastuzumab and chemotherapy can be predicted by HSD17B4 methylation.
Fujii S, Yamashita S, Yamaguchi T, Takahashi M, Hozumi Y, Ushijima T, Mukai H., Free PMC Article | 09/23/2017 |
| Our findings supported that HSD17B4 was one of the genes contributing to Perrault syndrome in this consanguineous Chinese Han family. | A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.
Chen K, Yang K, Luo SS, Chen C, Wang Y, Wang YX, Li DK, Yang YJ, Tang YL, Liu FT, Wang J, Wu JJ, Sun YM., Free PMC Article | 09/9/2017 |
| ere we present eight families affected by Perrault syndrome. In five families we identified novel or previously reported variants in HSD17B4, LARS2, CLPP and C10orf2 | Expanding the genotypic spectrum of Perrault syndrome.
Demain LA, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA, Yue WW, Mackinnon S, Munro KJ, Newbury-Ecob R, Becker K, Kim MJ, O' Keefe RT, Newman WG. | 07/1/2017 |
| Results show that HSD17B4 is highly expressed in hepatocellular carcinoma (HCC) cells and activated NF-kappaB co-localized with the NF-kappaB-responsive element of HSD17B4 suggesting that HSD17B4 plays an important role in aggravated HCC progression. | NF-κB increased expression of 17β-hydroxysteroid dehydrogenase 4 promotes HepG2 proliferation via inactivating estradiol.
Lu X, Ma P, Shi Y, Yao M, Hou L, Zhang P, Jiang L. | 10/17/2015 |
| Structural MFE-2 instability is the molecular basis of D-bifunctional protein deficiency type III. | On the molecular basis of D-bifunctional protein deficiency type III.
Mehtälä ML, Lensink MF, Pietikäinen LP, Hiltunen JK, Glumoff T., Free PMC Article | 07/6/2013 |
| Specific combination of compound heterozygous mutations in 17beta-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. | Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
McMillan HJ, Worthylake T, Schwartzentruber J, Gottlieb CC, Lawrence SE, Mackenzie A, Beaulieu CL, Mooyer PA, FORGE Canada Consortium, Wanders RJ, Majewski J, Bulman DE, Geraghty MT, Ferdinandusse S, Boycott KM., Free PMC Article | 06/22/2013 |
| Molecular models of domain structure of MFE-2 from human, C. elegans, and Drosophila melanogaster lend support to possible structural role of MFE-2 domains including SCP-2L (sterol carrier protein 2-like) domain in human and C. elegans proteins. | Quaternary structure of human, Drosophila melanogaster and Caenorhabditis elegans MFE-2 in solution from synchrotron small-angle X-ray scattering.
Mehtälä ML, Haataja TJ, Blanchet CE, Hiltunen JK, Svergun DI, Glumoff T. | 04/6/2013 |
| Epistasis between the HSD17B4 and thyroglobulin polymorphisms is associated with premature ovarian failure. A haplotype in the HSD17B4 gene was identified that was significantly associated with resistance to POF | Epistasis between the HSD17B4 and TG polymorphisms is associated with premature ovarian failure.
Pyun JA, Kim S, Cha DH, Ko JJ, Kwack K. | 06/2/2012 |
| The diagnosis of a type III DBPD with a missense mutation (T15A) in the HSD17B4 gene, coding for D-bifunctional protein (DBP), could be established. | Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma.
Grønborg S, Krätzner R, Spiegler J, Ferdinandusse S, Wanders RJ, Waterham HR, Gärtner J. | 02/5/2011 |
| MFE2 anchors its substrate around the region from Trp(249) to Arg(251) and positions the substrate along the hydrophobic cavity in the proper direction toward the catalytic center | Identification of a substrate-binding site in a peroxisomal beta-oxidation enzyme by photoaffinity labeling with a novel palmitoyl derivative.
Kashiwayama Y, Tomohiro T, Narita K, Suzumura M, Glumoff T, Hiltunen JK, Van Veldhoven PP, Hatanaka Y, Imanaka T., Free PMC Article | 10/4/2010 |
| Meta-analysis of gene-disease association. (HuGE Navigator) | Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium.
Canzian F, Cox DG, Setiawan VW, Stram DO, Ziegler RG, Dossus L, Beckmann L, Blanché H, Barricarte A, Berg CD, Bingham S, Buring J, Buys SS, Calle EE, Chanock SJ, Clavel-Chapelon F, DeLancey JO, Diver WR, Dorronsoro M, Haiman CA, Hallmans G, Hankinson SE, Hunter DJ, Hüsing A, Isaacs C, Khaw KT, Kolonel LN, Kraft P, Le Marchand L, Lund E, Overvad K, Panico S, Peeters PH, Pollak M, Thun MJ, Tjønneland A, Trichopoulos D, Tumino R, Yeager M, Hoover RN, Riboli E, Thomas G, Henderson BE, Kaaks R, Feigelson HS., Free PMC Article | 09/15/2010 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Perrault syndrome and DBP deficiency overlap clinically and Perrault syndrome is genetically heterogeneous. | Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.
Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM, Levy-Lahad E, Klevit RE, King MC., Free PMC Article | 09/6/2010 |
| rs11205 in HSD17B4 was associated with testicular germ cell tumor. Risk doubled per copy of the minor A allele. Homozygosity of this allele quadrupled the risk vs. homozygous major G allele. The risk was increased both for seminoma & nonseminoma. | Association of testicular germ cell tumor with polymorphisms in estrogen receptor and steroid metabolism genes.
Ferlin A, Ganz F, Pengo M, Selice R, Frigo AC, Foresta C. | 07/19/2010 |
| Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) | See all PubMed (2) articlesEffect modification of endocrine disruptors and testicular germ cell tumour risk by hormone-metabolizing genes.
Chia VM, Li Y, Quraishi SM, Graubard BI, Figueroa JD, Weber JP, Chanock SJ, Rubertone MV, Erickson RL, McGlynn KA. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
Shen M, Vermeulen R, Rajaraman P, Menashe I, He X, Chapman RS, Yeager M, Thomas G, Burdett L, Hutchinson A, Yuenger J, Chanock S, Lan Q. | 08/12/2009 |
| HSD17B4 is not only associated with the presence of prostate cancer, but is also a significant independent predictor of poor patient outcome. | HSD17B4 overexpression, an independent biomarker of poor patient outcome in prostate cancer.
Rasiah KK, Gardiner-Garden M, Padilla EJ, Möller G, Kench JG, Alles MC, Eggleton SA, Stricker PD, Adamski J, Sutherland RL, Henshall SM, Hayes VM. | 01/21/2010 |
| HSD17B4 mRNA is expressed in human skin, at similar levels in men and women. HSD17B4 levels are not altered by topical 17-beta-estradiol treatment. | Induction of collagen by estradiol: difference between sun-protected and photodamaged human skin in vivo.
Rittié L, Kang S, Voorhees JJ, Fisher GJ. | 10/9/2008 |