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1993 1
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2013 7
2014 7
2015 6
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2020 6
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2023 9
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56 results

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Page 1
Hpa2 Gene Cloning.
McKenzie E. McKenzie E. Adv Exp Med Biol. 2020;1221:787-805. doi: 10.1007/978-3-030-34521-1_34. Adv Exp Med Biol. 2020. PMID: 32274738 Review.
HPSE2 was found to be expressed mainly in smooth muscle containing tissues, particularly bladder and brain. ...A breakthrough in the elucidation of functional roles for HPSE2 came about in 2010 with the linkage of HPSE2 gene deletions and mutations to the dev …
HPSE2 was found to be expressed mainly in smooth muscle containing tissues, particularly bladder and brain. ...A breakthrough in the …
Urinary tract effects of HPSE2 mutations.
Stuart HM, Roberts NA, Hilton EN, McKenzie EA, Daly SB, Hadfield KD, Rahal JS, Gardiner NJ, Tanley SW, Lewis MA, Sites E, Angle B, Alves C, Lourenço T, Rodrigues M, Calado A, Amado M, Guerreiro N, Serras I, Beetz C, Varga RE, Silay MS, Darlow JM, Dobson MG, Barton DE, Hunziker M, Puri P, Feather SA, Goodship JA, Goodship TH, Lambert HJ, Cordell HJ; UK VUR Study Group; Saggar A, Kinali M; 4C Study Group; Lorenz C, Moeller K, Schaefer F, Bayazit AK, Weber S, Newman WG, Woolf AS. Stuart HM, et al. J Am Soc Nephrol. 2015 Apr;26(4):797-804. doi: 10.1681/ASN.2013090961. Epub 2014 Aug 21. J Am Soc Nephrol. 2015. PMID: 25145936 Free PMC article.
Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a heparanase 1 inhibitor, occur in UFS, but knowledge about the HPSE2 mutation spectrum is limited. …
Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of H …
Dysfunctional bladder neurophysiology in urofacial syndrome Hpse2 mutant mice.
Manak I, Gurney AM, McCloskey KD, Woolf AS, Roberts NA. Manak I, et al. Neurourol Urodyn. 2020 Sep;39(7):1930-1938. doi: 10.1002/nau.24450. Epub 2020 Jul 1. Neurourol Urodyn. 2020. PMID: 32609936
Around half of individuals with UFS have biallelic mutations of HPSE2 that encodes heparanase 2, a protein found in pelvic ganglia and bladder nerves. Homozygous Hpse2 mutant mice have abnormal patterns of nerves in the bladder body and outflow tract, and also have …
Around half of individuals with UFS have biallelic mutations of HPSE2 that encodes heparanase 2, a protein found in pelvic ganglia an …
Effect of HPSE and HPSE2 SNPs on the Risk of Developing Primary Paraskeletal Multiple Myeloma.
Ostrovsky O, Beider K, Magen H, Leiba M, Sanderson RD, Vlodavsky I, Nagler A. Ostrovsky O, et al. Cells. 2023 Mar 16;12(6):913. doi: 10.3390/cells12060913. Cells. 2023. PMID: 36980254 Free PMC article.
SNP rs657442, located in intron 9 of the HPSE2 gene, revealed a significant protective association with primary paraskeletal disease and lytic bone lesions. The present study demonstrates a promoting (HPSE gene) and protective (HPSE2 gene) role of gene regulatory el …
SNP rs657442, located in intron 9 of the HPSE2 gene, revealed a significant protective association with primary paraskeletal disease …
Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.
Beaman GM, Lopes FM, Hofmann A, Roesch W, Promm M, Bijlsma EK, Patel C, Akinci A, Burgu B, Knijnenburg J, Ho G, Aufschlaeger C, Dathe S, Voelckel MA, Cohen M, Yue WW, Stuart HM, Mckenzie EA, Elvin M, Roberts NA, Woolf AS, Newman WG. Beaman GM, et al. Front Genet. 2022 Jun 23;13:896125. doi: 10.3389/fgene.2022.896125. eCollection 2022. Front Genet. 2022. PMID: 35812751 Free PMC article.
Hpse2 mutant mice have aberrant bladder nerves. We sought to expand the genotypic spectrum of UFS and make insights into its pathobiology. ...Indeed, biallelic variants of LRIG2 have been implicated in rare UFS families. The study expands the genotypic spectrum in HPSE2 …
Hpse2 mutant mice have aberrant bladder nerves. We sought to expand the genotypic spectrum of UFS and make insights into its pathobio …
Heparanase-2 protein and peptides have a protective effect on experimental glomerulonephritis and diabetic nephropathy.
Buijsers B, Garsen M, de Graaf M, Bakker-van Bebber M, Guo C, Li X, van der Vlag J. Buijsers B, et al. Front Pharmacol. 2023 Apr 27;14:1098184. doi: 10.3389/fphar.2023.1098184. eCollection 2023. Front Pharmacol. 2023. PMID: 37180718 Free PMC article.
The importance of HPSE2 has been recently demonstrated in HPSE2-deficient mice, since these mice developed albuminuria and died within a few months after birth. ...Both HPSE2 protein and a mixture of the three most potent HPSE1 inhibitory HPSE2 peptide …
The importance of HPSE2 has been recently demonstrated in HPSE2-deficient mice, since these mice developed albuminuria and die …
HPSE2 mutations in urofacial syndrome, non-neurogenic neurogenic bladder and lower urinary tract dysfunction.
Bulum B, Özçakar ZB, Duman D, Cengiz FB, Kavaz A, Burgu B, Baskın E, Çakar N, Soygür T, Ekim M, Tekin M, Yalçınkaya F. Bulum B, et al. Nephron. 2015;130(1):54-8. doi: 10.1159/000381465. Epub 2015 Apr 28. Nephron. 2015. PMID: 25924634
The aim of this study was to analyse HPSE2 mutations in patients with UFS and NNNB or severe lower urinary tract dysfunction (LUTD) without abnormal facial expression. ...There were seven UFS patients from five different families, 21 patients with NNNB and seven with LUTD. …
The aim of this study was to analyse HPSE2 mutations in patients with UFS and NNNB or severe lower urinary tract dysfunction (LUTD) w …
Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.
Roberts NA, Hilton EN, Lopes FM, Singh S, Randles MJ, Gardiner NJ, Chopra K, Coletta R, Bajwa Z, Hall RJ, Yue WW, Schaefer F, Weber S, Henriksson R, Stuart HM, Hedman H, Newman WG, Woolf AS. Roberts NA, et al. Kidney Int. 2019 May;95(5):1138-1152. doi: 10.1016/j.kint.2018.11.040. Epub 2019 Mar 8. Kidney Int. 2019. PMID: 30885509 Free PMC article.
Mutations in leucine-rich-repeats and immunoglobulin-like-domains 2 (LRIG2) or in heparanase 2 (HPSE2) cause urofacial syndrome, a devastating autosomal recessive disease of functional bladder outlet obstruction. ...Transcriptome analysis revealed differential expression o …
Mutations in leucine-rich-repeats and immunoglobulin-like-domains 2 (LRIG2) or in heparanase 2 (HPSE2) cause urofacial syndrome, a de …
Urofacial Syndrome.
Newman WG, Woolf AS, Beaman GM, Roberts NA. Newman WG, et al. 2013 Aug 22 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2013 Aug 22 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 23967498 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The clinical diagnosis of UFS can be established in an individual with urinary tract dysfunction and characteristic facial movement with expression, or the molecular diagnosis can be established in an individual with characteristic features and biallelic pathog …
DIAGNOSIS/TESTING: The clinical diagnosis of UFS can be established in an individual with urinary tract dysfunction and characteristic facia …
Mutations in HPSE2 cause urofacial syndrome.
Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG. Daly SB, et al. Am J Hum Genet. 2010 Jun 11;86(6):963-9. doi: 10.1016/j.ajhg.2010.05.006. Am J Hum Genet. 2010. PMID: 20560210 Free PMC article.
Whole-genome SNP mapping in one affected individual defined an autozygous region of 16 Mb on chromosome 10q23-q24, within which a 10 kb deletion encompassing exons 8 and 9 of HPSE2 was identified. Homozygous exonic deletions, nonsense mutations, and frameshift mutations in …
Whole-genome SNP mapping in one affected individual defined an autozygous region of 16 Mb on chromosome 10q23-q24, within which a 10 kb dele …
56 results