Hughes J - Search Results

1

Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein.

Hughes J, Ward CJ, Aspinwall R, Butler R, Harris PC. Hughes J, et al. Hum Mol Genet. 1999 Mar;8(3):543-9. doi: 10.1093/hmg/8.3.543. Hum Mol Genet. 1999. PMID: 9949214

2

The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains.

Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, San Millán JL, Gamble V, Harris PC. Hughes J, et al. Nat Genet. 1995 Jun;10(2):151-60. doi: 10.1038/ng0695-151. Nat Genet. 1995. PMID: 7663510

3

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome.

Brook-Carter PT, Peral B, Ward CJ, Thompson P, Hughes J, Maheshwar MM, Nellist M, Gamble V, Harris PC, Sampson JR. Brook-Carter PT, et al. Among authors: hughes j. Nat Genet. 1994 Dec;8(4):328-32. doi: 10.1038/ng1294-328. Nat Genet. 1994. PMID: 7894481

4

Autosomal dominant polycystic kidney disease: molecular analysis.

Harris PC, Ward CJ, Peral B, Hughes J. Harris PC, et al. Among authors: hughes j. Hum Mol Genet. 1995;4 Spec No:1745-9. doi: 10.1093/hmg/4.suppl_1.1745. Hum Mol Genet. 1995. PMID: 8541874 Review.

5

Polycystic kidney disease. 1: Identification and analysis of the primary defect.

Harris PC, Ward CJ, Peral B, Hughes J. Harris PC, et al. Among authors: hughes j. J Am Soc Nephrol. 1995 Oct;6(4):1125-33. doi: 10.1681/ASN.V641125. J Am Soc Nephrol. 1995. PMID: 8589278 Review.

6

Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains.

Sandford R, Sgotto B, Aparicio S, Brenner S, Vaudin M, Wilson RK, Chissoe S, Pepin K, Bateman A, Chothia C, Hughes J, Harris P. Sandford R, et al. Among authors: hughes j. Hum Mol Genet. 1997 Sep;6(9):1483-9. doi: 10.1093/hmg/6.9.1483. Hum Mol Genet. 1997. PMID: 9285785

7

The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.

Rahman N, Dunstan M, Teare MD, Hanks S, Edkins SJ, Hughes J, Bignell GR, Mancini G, Kleijer W, Campbell M, Keser G, Black C, Williams N, Arbour L, Warman M, Superti-Furga A, Futreal PA, Pope FM. Rahman N, et al. Among authors: hughes j. Am J Hum Genet. 2002 Oct;71(4):975-80. doi: 10.1086/342776. Epub 2002 Sep 4. Am J Hum Genet. 2002. PMID: 12214284 Free PMC article.

8

Plasma cells show decreased CD138 expression when exposed to buffers containing sodium azide.

Hughes J, Soma L, Lee W, Song JY. Hughes J, et al. Cytometry B Clin Cytom. 2025 Jan 6. doi: 10.1002/cyto.b.22221. Online ahead of print. Cytometry B Clin Cytom. 2025. PMID: 39760156 No abstract available.

9

Meniscal forces and knee kinematics are affected by tibial slope modifying high tibial osteotomy.

Winkler PW, Chan CK, Polamalu SK, Lucidi GA, Wagala NN, Hughes JD, Debski RE, Musahl V. Winkler PW, et al. Among authors: hughes jd. Knee Surg Sports Traumatol Arthrosc. 2025 Jan 5. doi: 10.1002/ksa.12577. Online ahead of print. Knee Surg Sports Traumatol Arthrosc. 2025. PMID: 39756014

10

A Multidisciplinary Approach to Navigating Variants of Uncertain Significance in Sudden Infant Deaths: A Case Report of 2 Siblings With an SCN10A VUS.

Dumm R, Pagani A, Hellwig L, Haigney M, De Castro M, Hughes J, Schacht JP, McClain W, Walsh J. Dumm R, et al. Among authors: hughes j. Am J Forensic Med Pathol. 2025 Jan 2. doi: 10.1097/PAF.0000000000001008. Online ahead of print. Am J Forensic Med Pathol. 2025. PMID: 39746012

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