J. Zhou

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LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis.

A. Ballabio, Y. Pei, A. Renieri, 1999, American journal of human genetics.

Complete primary structure of the sixth chain of human basement membrane collagen, alpha 6(IV). Isolation of the cDNAs for alpha 6(IV) and comparison with five other type IV collagen chains.

J. Zhou, S. Reeders, Jing Zhou, 1994, The Journal of biological chemistry.

Structure of the human type IV collagen COL4A6 gene, which is mutated in Alport syndrome-associated leiomyomatosis.

K. Tryggvason, J. Zhou, S. Reeders, 1996, Genomics.

COL4A5 deletions in three patients with Alport syndrome and posttransplant antiglomerular basement membrane nephritis.

K. Tryggvason, J. Zhou, C. Kashtan, 1994, Journal of the American Society of Nephrology : JASN.

Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.

C. Antignac, F. Gros, B. Knebelmann, 1994, The Journal of clinical investigation.

Seminiferous tubule basement membrane. Composition and organization of type IV collagen chains, and the linkage of alpha3(IV) and alpha5(IV) chains.

R. Kalluri, B. Hudson, J. Zhou, 1997, The Journal of biological chemistry.

Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second gene.

R. Conwit, F. Barany, I. Hausmanowa-Petrusewicz, 1993, American journal of human genetics.

Hyperkalemic periodic paralysis

E. Hoffman, C. Wadelius, R. Conwit, 1993, Neurology.

Deletion spanning the 5′ ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis

A. Ballabio, A. Renieri, M. De Marchi, 1994, Human mutation.

Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome.

M. Nelen, H. Brunner, B. V. van Oost, 1993, Genomics.

Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.

H. Smeets, M. Nelen, J. Melenhorst, 1992, Kidney international.

Regulation of the paired type IV collagen genes COL4A5 and COL4A6. Role of the proximal promoter region.

Y. Segal, J. Zhou, E. Rondeau, 2001, The Journal of biological chemistry.

Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.

C. Antignac, M. Gubler, B. Knebelmann, 1992, American journal of human genetics.

Mutation in the alpha 5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product.

K. Tryggvason, J. Zhou, J. Hertz, 1992, American journal of human genetics.

Identification, distribution, and tissular origin of the alpha5(IV) and alpha6(IV) collagen chains in the developing human intestine.

J. Beaulieu, N. Perreault, J. Zhou, 1998, Developmental dynamics : an official publication of the American Association of Anatomists.

Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome.

M. Gregory, D. Barker, K. Tryggvason, 1993, Kidney international.

Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: a study of 250 patients with hematuria and suspected of having Alport syndrome.

R. Trembath, M. Gregory, D. Barker, 1996, Journal of the American Society of Nephrology : JASN.

A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome.

U. Jensen, K. Tryggvason, J. Zhou, 1995, Kidney international.

Deletions of the COL4A5 gene in patients with Alport syndrome.

K. Tryggvason, L. Renders, J. Zhou, 1992, Kidney international.

Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient.

K. Tryggvason, J. Zhou, J. Hertz, 1992, The Journal of biological chemistry.

Molecular genetics of Alport syndrome.

K. Tryggvason, J. Zhou, S. L. Hostikka, 1993, Kidney international.

Alport syndrome and diffuse leiomyomatosis: deletions in the 5' end of the COL4A5 collagen gene.

M. Sanak, C. Antignac, B. Knebelmann, 1992, Kidney international.

A rippling muscle disease gene is localized to 1q41

D. Stephan, E. Hoffman, A. Chittenden, 1994, Neurology.

Identification of mutations in the COL4A5 collagen gene in Alport syndrome.

M. Skolnick, A. Oliphant, M. Gregory, 1990, Science.

Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors.

H. Smeets, C. Antignac, A. De Paepe, 1993, Science.

Cloning and expression analysis of two pro-inflammatory cytokines, IL-1β and its receptor, IL-1R2, in the Asian swamp eel Monopterus albus

P. Xu, J. Zhou, Q. Q. Xu, 2016, Molecular Biology.

Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome.

M. Gregory, D. Barker, K. Tryggvason, 1991, Genomics.

Characterization of the 3' half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome.

L. Chow, K. Tryggvason, J. Zhou, 1991, Genomics.

Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours.

C. Guyot, K. Dahan, K. Leppig, 1995, Human molecular genetics.

Identification and localization of polycystin, the PKD1 gene product.

Y. Pei, H. Rennke, M. Ericsson, 1996, The Journal of clinical investigation.

X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

A. Ballabio, P. Pignatti, G. Rizzoni, 1996, American journal of human genetics.

COL4A5 splice site mutation and alpha 5(IV) collagen mRNA in Alport syndrome.

K. Tryggvason, J. Zhou, U. Frei, 1993, Kidney international.

Complete Primary Structure of the Sixth Chain of Human Basement Membrane Collagen , a 6 ( IV )

J. Zhou, S. Reeders, M. Ding, 2001 .

Distribution and developmentally regulated expression of murine polycystin.

Weining Lu, Jing Zhou, A. Pavlova, 1997, The American journal of physiology.

Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.

C. Antignac, C. Antignac, M. Gubler, 1997, Cytogenetics and cell genetics.

High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

T. Shows, M. Gregory, D. Barker, 1998, Journal of the American Society of Nephrology : JASN.

Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis.

E. Hoffman, J. Zhou, S. Spier, 1994, Human molecular genetics.

S. Weremowicz, C. Morton, H. Nomura, 1996, Genomics.

Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females.

K. Dahan, K. Leppig, J. Zhou, 1995, Kidney international.

Structure of the human type IV collagen COL4A5 gene.

K. Tryggvason, J. Zhou, A. Leinonen, 1994, The Journal of biological chemistry.

Pathophysiology of sodium channelopathies. Studies of sodium channel expression by quantitative multiplex fluorescence polymerase chain reaction.

E. Hoffman, J. Zhou, 1994, The Journal of biological chemistry.