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16 results for author:"Lalioti M.D."Drop in Literature Citations

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WNK4 regulates activity of the epithelial Na+ channel in vitro and in vivo.

Ring A.M., Cheng S.X., Leng Q., Kahle K.T., Rinehart J., Lalioti M.D., Volkman H.M., Wilson F.H., Hebert S.C., Lifton R.P.

Proc. Natl. Acad. Sci. U.S.A. 104:4020-4024(2007) · Mapped (6)

An embryonic poly(A)-binding protein (ePAB) is expressed in mouse oocytes and early preimplantation embryos.

Seli E., Lalioti M.D., Flaherty S.M., Sakkas D., Terzi N., Steitz J.A.

Proc. Natl. Acad. Sci. U.S.A. 102:367-372(2005) · UniProtKB (1) · Mapped (8)

Skeletal development is regulated by fibroblast growth factor receptor 1 signalling dynamics.

Hajihosseini M.K., Lalioti M.D., Arthaud S., Burgar H.R., Brown J.M., Twigg S.R., Wilkie A.O., Heath J.K.

Development 131:325-335(2004) · Mapped (12)

WNK4 regulates the balance between renal NaCl reabsorption and K+ secretion.

Kahle K.T., Wilson F.H., Leng Q., Lalioti M.D., O'Connell A.D., Dong K., Rapson A.K., MacGregor G.G., Giebisch G., Hebert S.C. et al.

Nat. Genet. 35:372-376(2003) · UniProtKB (2) · Mapped (4)

Molecular pathogenesis of inherited hypertension with hyperkalemia: The Na-Cl cotransporter is inhibited by wild-type but not mutant WNK4.

Wilson F.H., Kahle K.T., Sabath E., Lalioti M.D., Rapson A.K., Hoover R.S., Hebert S.C., Gamba G., Lifton R.P.

Proc. Natl. Acad. Sci. U.S.A. 100:680-684(2003) · UniProtKB (1) · Mapped (3)

Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein.

Michaud J., Kudoh J., Berry A., Bonne-Tamir B., Lalioti M.D., Rossier C., Shibuya K., Kawasaki K., Asakawa S., Minoshima S. et al.

Genomics 68:71-79(2000) · UniProtKB (2)

Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence.

Guipponi M., Scott H.S., Kudoh J., Kawasaki K., Shibuya K., Shintani A., Asakawa S., Chen H., Lalioti M.D., Rossier C. et al.

Hum. Genet. 103:386-392(1998) · UniProtKB (2)

Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.

Scott H.S., Heino M., Peterson P., Mittaz L., Lalioti M.D., Betterle C., Cohen A., Seri M., Lerone M., Romeo G. et al.

Mol. Endocrinol. 12:1112-1119(1998) · UniProtKB (1)

Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2).

Scott H.S., Antonarakis S.E., Lalioti M.D., Rossier C., Silver P.A., Henry M.F.

Genomics 48:330-340(1998) · UniProtKB (2) · Mapped (1)

Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis.

Scott H.S., Kyriakou D.S., Peterson P., Heino M., Tahtinen M., Krohn K., Chen H., Rossier C., Lalioti M.D., Antonarakis S.E.

Genomics 47:64-70(1998) · UniProtKB (1)

Positional cloning of the APECED gene.

Nagamine K., Peterson P., Scott H.S., Kudoh J., Minoshima S., Heino M., Krohn K.J.E., Lalioti M.D., Mullis P.E., Antonarakis S.E. et al.

Nat. Genet. 17:393-398(1997) · UniProtKB (1)

Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3.

Scott H.S., Chen H., Rossier C., Lalioti M.D., Antonarakis S.E.

Hum. Genet. 99:616-623(1997) · UniProtKB (1)

Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).

Lalioti M.D., Mirotsou M., Buresi C., Peitsch M.C., Rossier C., Ouazzani R., Baldy-Moulinier M., Bottani A., Malafosse A., Antonarakis S.E.

Am. J. Hum. Genet. 60:342-351(1997) · UniProtKB (1)

Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3.

Lalioti M.D., Chen H., Rossier C., Reid J.D., Antonarakis S.E.

Genomics 35:321-327(1996) · UniProtKB (1) · Mapped (1)

Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3.

Chen H.M., Rossier C., Lalioti M.D., Lynn A., Chakravarti A., Perrin G., Antonarakis S.E.

Am. J. Hum. Genet. 59:66-75(1996) · UniProtKB (1)

The human lanosterol synthase gene maps to chromosome 21q22.3.

Young M., Chen H., Lalioti M.D., Antonarakis S.E.

Hum. Genet. 97:620-624(1996) · UniProtKB (2) · Mapped (1)

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