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Page 1
TSPYL1 as a Critical Regulator of TGFbeta Signaling through Repression of TGFBR1 and TSPYL2.
Tan H, Miao MX, Luo RX, So J, Peng L, Zhu X, Leung EHW, Zhu L, Chan KM, Cheung M, Chan SY. Tan H, et al. Adv Sci (Weinh). 2024 Jun;11(21):e2306486. doi: 10.1002/advs.202306486. Epub 2024 Apr 8. Adv Sci (Weinh). 2024. PMID: 38588050 Free PMC article.
Depletion of TSPYL2 rescues the EMT phenotype of TSPYL1 knockdown in A549 lung carcinoma cells. The data demonstrates the prime role of TSPYL2 in causing the dramatic defects in TSPYL1 deficiency. An intricate counter-balancing role of TSPYL1 an …
Depletion of TSPYL2 rescues the EMT phenotype of TSPYL1 knockdown in A549 lung carcinoma cells. The data demonstrates the prim …
TSPYL5-mediated inhibition of p53 promotes human endothelial cell function.
Na HJ, Yeum CE, Kim HS, Lee J, Kim JY, Cho YS. Na HJ, et al. Angiogenesis. 2019 May;22(2):281-293. doi: 10.1007/s10456-018-9656-z. Epub 2018 Nov 23. Angiogenesis. 2019. PMID: 30471052
Testis-specific protein, Y-encoded like (TSPYL) family proteins (TSPYL1-6), which are members of the nucleosome assembly protein superfamily, have been determined to be involved in the regulation of various cellular functions. ...Adriamycin-induced senescence was ma …
Testis-specific protein, Y-encoded like (TSPYL) family proteins (TSPYL1-6), which are members of the nucleosome assembly prote …
Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report.
Slater B, Glinton K, Dai H, Lay E, Karaviti L, Mizerik E, Murali CN, Lalani SR, Bacino CA, Rossetti LZ. Slater B, et al. Am J Med Genet A. 2020 Nov;182(11):2751-2754. doi: 10.1002/ajmg.a.61842. Epub 2020 Sep 4. Am J Med Genet A. 2020. PMID: 32885560
Sudden Infant Death with Dysgenesis of the Testes syndrome (SIDDT) is a very rare condition associated with biallelic pathogenic variants in the TSPYL1 gene first reported in 2004. ...Further workup with exome sequencing revealed homozygosity for a frameshift varian …
Sudden Infant Death with Dysgenesis of the Testes syndrome (SIDDT) is a very rare condition associated with biallelic pathogenic vari …
Unravelling the disease mechanism for TSPYL1 deficiency.
Buyse G, Di Michele M, Wijgaerts A, Louwette S, Wittevrongel C, Thys C, Downes K, Ceulemans B, Van Esch H, Van Geet C, Freson K. Buyse G, et al. Hum Mol Genet. 2020 Dec 18;29(20):3431-3442. doi: 10.1093/hmg/ddaa233. Hum Mol Genet. 2020. PMID: 33075815 Free article.
Whole-exome sequencing revealed a novel homozygous frameshift variant p.Val242GlufsTer52 in the TSPY-like 1 gene (TSPYL1). The truncated TSPYL1 protein that lacks the nucleosome assembly protein domain was retained in the Golgi of fibroblasts from the three patients …
Whole-exome sequencing revealed a novel homozygous frameshift variant p.Val242GlufsTer52 in the TSPY-like 1 gene (TSPYL1). The trunca …
Differential Genes Expression between Fertile and Infertile Spermatozoa Revealed by Transcriptome Analysis.
Bansal SK, Gupta N, Sankhwar SN, Rajender S. Bansal SK, et al. PLoS One. 2015 May 14;10(5):e0127007. doi: 10.1371/journal.pone.0127007. eCollection 2015. PLoS One. 2015. PMID: 25973848 Free PMC article.
Some of these transcripts were related to heat shock proteins (DNAJB4, DNAJB14), testis specific genes (TCP11, TESK1, TSPYL1, ADAD1), and Y-chromosome genes (DAZ1, TSPYL1). CONCLUSION: A complex RNA population in spermatozoa consisted of coding and non-coding RNAs. …
Some of these transcripts were related to heat shock proteins (DNAJB4, DNAJB14), testis specific genes (TCP11, TESK1, TSPYL1, ADAD1), …
TSPYL Family Regulates CYP17A1 and CYP3A4 Expression: Potential Mechanism Contributing to Abiraterone Response in Metastatic Castration-Resistant Prostate Cancer.
Qin S, Liu D, Kohli M, Wang L, Vedell PT, Hillman DW, Niu N, Yu J, Weinshilboum RM, Wang L. Qin S, et al. Clin Pharmacol Ther. 2018 Jul;104(1):201-210. doi: 10.1002/cpt.907. Epub 2017 Nov 22. Clin Pharmacol Ther. 2018. PMID: 29027195 Free PMC article.
The testis-specific Y-encoded-like protein (TSPYL) gene family includes TSPYL1 to TSPYL6. We previously reported that TSPYL5 regulates cytochrome P450 (CYP) 19A1 expression. ...Furthermore, a common TSPYL1 single nucleotide polymorphism (SNP), r …
The testis-specific Y-encoded-like protein (TSPYL) gene family includes TSPYL1 to TSPYL6. We previously reported that …
Should TSPYL1 mutation screening be included in routine diagnostics of male idiopathic infertility?
Javaher P, Stuhrmann M, Wilke C, Frenzel E, Manukjan G, Grosshenig A, Dechend F, Schwaab E, Schmidtke J, Schubert S. Javaher P, et al. Fertil Steril. 2012 Feb;97(2):402-6. doi: 10.1016/j.fertnstert.2011.11.002. Epub 2011 Dec 2. Fertil Steril. 2012. PMID: 22137496 Free article.
OBJECTIVE: To investigate a putative role of TSPYL1 in male idiopathic infertility. DESIGN: Clinical article. SETTING: University hospital. ...INTERVENTION(S): Mutation screening of the coding region and parts of the 5' and 3' untranslated regions of the TSPYL1 gene …
OBJECTIVE: To investigate a putative role of TSPYL1 in male idiopathic infertility. DESIGN: Clinical article. SETTING: University hos …
Genetic investigation of the TSPYL1 gene in sudden infant death syndrome.
Hering R, Frade-Martinez R, Bajanowski T, Poets CF, Tschentscher F, Riess O. Hering R, et al. Genet Med. 2006 Jan;8(1):55-8. doi: 10.1097/01.gim.0000195898.15290.03. Genet Med. 2006. PMID: 16418600 Free article.
Recently, a lethal phenotype characterized by sudden infant death with dysgenesis of the testes syndrome (SIDDT) was identified to be caused by loss of function mutations in the TSPYL1 gene. PURPOSE: The study's purpose was to reveal a possible role of TSPYL1 …
Recently, a lethal phenotype characterized by sudden infant death with dysgenesis of the testes syndrome (SIDDT) was identified to be …
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.
Mazel B, Mallet D, Roucher-Boulez F, Signor CB, Bournez M, Darmency V, Bourgeois V, Poe C, El Khabbaz F, Vitobello A, Philippe C, Duffourd Y, Thauvin-Robinet C, Faivre L, Nambot S. Mazel B, et al. Am J Med Genet A. 2022 Dec;188(12):3540-3545. doi: 10.1002/ajmg.a.62966. Epub 2022 Sep 9. Am J Med Genet A. 2022. PMID: 36082874
First described in 2004, very few patients have since been reported. We describe here a new patient with SIDDT and epileptic encephalopathy (EE). We provide the phenotypic description and genetic results of a boy carrying biallelic TSPYL1 deleterious variants. ...To …
First described in 2004, very few patients have since been reported. We describe here a new patient with SIDDT and epileptic encephal …
Spermatogenic phenotype of testis-specific protein, Y-encoded, 1 (TSPY1) dosage deficiency is independent of variations in TSPY-like 1 (TSPYL1) and TSPY-like 5 (TSPYL5): a case-control study in a Han Chinese population.
Yang X, Leng X, Tu W, Liu Y, Xu J, Pei X, Ma Y, Yang D, Yang Y. Yang X, et al. Reprod Fertil Dev. 2018 Mar;30(3):555-562. doi: 10.1071/RD17146. Reprod Fertil Dev. 2018. PMID: 28847364
TSPYL1 and TSPYL5 were expressed in many different tissues, including the testis. An unreported rare variant that is likely pathogenic (c.1057A>G, p.Thr353Ala) and another of uncertain significance (c.1258C>T, p.Arg420Cys) in the NAP-coding sequence of TSPY …
TSPYL1 and TSPYL5 were expressed in many different tissues, including the testis. An unreported rare variant that is likely pa …
18 results