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1995 2
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2001 2
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2006 4
2007 3
2008 4
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2010 5
2011 3
2012 4
2013 4
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90 results

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Page 1
Genetics of ovarian insufficiency and defects of folliculogenesis.
França MM, Mendonca BB. França MM, et al. Best Pract Res Clin Endocrinol Metab. 2022 Jan;36(1):101594. doi: 10.1016/j.beem.2021.101594. Epub 2021 Oct 14. Best Pract Res Clin Endocrinol Metab. 2022. PMID: 34794894 Review.
Thirty-four of these genes (AARS2, AIRE, ANTXR1, ATM, BMPR1B, CLPP, CYP17A1, CYP19A1, DCAF17, EIF2B, ERAL1, FANCA, FANCC, FMR1, FOXL2, GALT, GNAS, HARS2, HSD17B4, LARS2, LMNA, MGME1, NBN, PMM2, POLG, PREPL, RCBTB1, RECQL2/3/4, STAR, TWNK, and XRCC4/9) have been linked to s …
Thirty-four of these genes (AARS2, AIRE, ANTXR1, ATM, BMPR1B, CLPP, CYP17A1, CYP19A1, DCAF17, EIF2B, ERAL1, FANCA, FANCC, FMR1, FOXL2, GALT, …
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucińska-Więckowska A, Pajdowska M, Jurkiewicz E, Halat P, Kosińska J, Pollak A, Rydzanicz M, Stawinski P, Pronicki M, Krajewska-Walasek M, Płoski R. Pronicka E, et al. J Transl Med. 2016 Jun 12;14(1):174. doi: 10.1186/s12967-016-0930-9. J Transl Med. 2016. PMID: 27290639 Free PMC article.
In 19 cases, variants in 18 non-MD related genes (ADAR, CACNA1A, CDKL5, CLN3, CPS1, DMD, DYSF, GBE1, GFAP, HSD17B4, MECP2, MYBPC3, PEX5, PGAP2, PIGN, PRF1, SBDS, SCN2A) were found. The percentage of positive WES results rose gradually with increasing probability of MD acco …
In 19 cases, variants in 18 non-MD related genes (ADAR, CACNA1A, CDKL5, CLN3, CPS1, DMD, DYSF, GBE1, GFAP, HSD17B4, MECP2, MYBPC3, PE …
D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes.
Nakano K, Zhang Z, Shimozawa N, Kondo N, Ishii N, Funatsuka M, Shirakawa S, Itoh M, Takashima S, Une M, Kana-aki RR, Mukai K, Osawa M, Suzuki Y. Nakano K, et al. J Pediatr. 2001 Dec;139(6):865-7. doi: 10.1067/mpd.2001.119170. J Pediatr. 2001. PMID: 11743515
Fetal abnormalities including chylous ascites, polyhydramnios, claw hands, and hammer toes were identified in an infant who had a missense mutation R106P and a 52bp deletion in the gene for a peroxisomal beta-oxidation enzyme, D-3-hydroxyacyl-CoA de …
Fetal abnormalities including chylous ascites, polyhydramnios, claw hands, and hammer toes were identified in an infant who had a missense m …
Unique multifunctional HSD17B4 gene product: 17beta-hydroxysteroid dehydrogenase 4 and D-3-hydroxyacyl-coenzyme A dehydrogenase/hydratase involved in Zellweger syndrome.
de Launoit Y, Adamski J. de Launoit Y, et al. J Mol Endocrinol. 1999 Jun;22(3):227-40. doi: 10.1677/jme.0.0220227. J Mol Endocrinol. 1999. PMID: 10343282 Review.
The peroxisomal 17beta-hydroxysteroid dehydrogenase type 4 (17beta-HSD 4, gene name HSD17B4) catalyzes the oxidation of estradiol with high preference over the reduction of estrone. ...Mutations in the HSD17B4 lead to a fatal form of Zellweger syndrome....
The peroxisomal 17beta-hydroxysteroid dehydrogenase type 4 (17beta-HSD 4, gene name HSD17B4) catalyzes the oxidation of estradiol wit …
Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes.
De Michele G, Maione L, Cocozza S, Tranfa M, Pane C, Galatolo D, De Rosa A, De Michele G, Saccà F, Filla A. De Michele G, et al. Cerebellum. 2024 Apr;23(2):688-701. doi: 10.1007/s12311-023-01549-x. Epub 2023 Mar 30. Cerebellum. 2024. PMID: 36997834 Review.
In the second part, we mention clinical syndromes and genes (POLR3A, CLPP, ERAL1, HARS, HSD17B4, LARS2, TWNK, POLG, ATM, WFS1, PMM2, FMR1) linked to complex phenotypes that include, among other features, ataxia and hypogonadism. ...
In the second part, we mention clinical syndromes and genes (POLR3A, CLPP, ERAL1, HARS, HSD17B4, LARS2, TWNK, POLG, ATM, WFS1, PMM2, …
D-bifunctional protein deficiency caused by HSD17B4 gene mutation in a neonate.
Yang SM, Cao CD, Ding Y, Wang MJ, Yue SJ. Yang SM, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2021 Oct 15;23(10):1058-1063. doi: 10.7499/j.issn.1008-8830.2107158. Zhongguo Dang Dai Er Ke Za Zhi. 2021. PMID: 34719423 Free PMC article. Chinese, English.
Genetic testing showed a pathogenic compound heterozygous mutation, c.101C>T(p.Ala34Val) and c.1448_1460del(p.Ala483Aspfs*37), in the HSD17B4 gene. This article reports a case of D-bifunctional protein deficiency caused by HSD17B4 gene mutation and summarizes the …
Genetic testing showed a pathogenic compound heterozygous mutation, c.101C>T(p.Ala34Val) and c.1448_1460del(p.Ala483Aspfs*37), in the …
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. Lu X, et al. Oncol Rep. 2019 Mar;41(3):2009-2019. doi: 10.3892/or.2019.6981. Epub 2019 Jan 23. Oncol Rep. 2019. PMID: 30747222
A previous study reported that elevated levels of 17beta-hydroxysteroid dehydrogenase 4 (HSD17B4) are observed in patients with liver cancer. The current study investigated how upregulated HSD17B4 expression promoted the expression of proliferation-associated genes …
A previous study reported that elevated levels of 17beta-hydroxysteroid dehydrogenase 4 (HSD17B4) are observed in patients with liver …
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. Huang H, et al. Aging (Albany NY). 2020 Jul 17;12(14):14699-14717. doi: 10.18632/aging.103530. Epub 2020 Jul 17. Aging (Albany NY). 2020. PMID: 32678070 Free PMC article.
Here we showed that the expression of HSD17B4 was increased in PCa tissues compared to paired paratumor tissues. HSD17B4 knockdown in PCa cells significantly suppressed its proliferation, migration and invasion, while overexpressing HSD17B4 had opposite effec …
Here we showed that the expression of HSD17B4 was increased in PCa tissues compared to paired paratumor tissues. HSD17B4 knock …
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. Idyahia A, et al. Mol Biol Rep. 2024 Jul 25;51(1):850. doi: 10.1007/s11033-024-09740-x. Mol Biol Rep. 2024. PMID: 39052101
The patient in the third family was diagnosed with D-bifunctional protein deficiency (D-BPD), linked to compound heterozygous mutations p. Asn457Tyr and p. Val643Argfs*5 in HSD17B4. Molecular dynamic simulation results showed that Val643Argfs*5 does not prevent HSD17B4 …
The patient in the third family was diagnosed with D-bifunctional protein deficiency (D-BPD), linked to compound heterozygous mutations p. A …
Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.
Lines MA, Jobling R, Brady L, Marshall CR, Scherer SW, Rodriguez AR, Lee L, Lang AE, Mestre TA, Wanders RJ, Ferdinandusse S, Tarnopolsky MA; Canadian Pediatric Genetic Disorders Sequencing Consortium (FORGE Canada). Lines MA, et al. Neurology. 2014 Mar 18;82(11):963-8. doi: 10.1212/WNL.0000000000000219. Epub 2014 Feb 19. Neurology. 2014. PMID: 24553428 Free PMC article.
RESULTS: Exome sequencing identified compound heterozygous mutations in HSD17B4, encoding peroxisomal DBP, in all 3 probands. Both identified mutations alter a conserved residue within the active site of DBP's enoyl-CoA hydratase domain. ...Given the broad differential dia …
RESULTS: Exome sequencing identified compound heterozygous mutations in HSD17B4, encoding peroxisomal DBP, in all 3 probands. Both id …
90 results