Antonarakis SE - Search Results

1

TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness.

Guipponi M, Antonarakis SE, Scott HS. Guipponi M, et al. Among authors: antonarakis se. Front Biosci. 2008 Jan 1;13:1557-67. doi: 10.2741/2780. Front Biosci. 2008. PMID: 17981648 Review.

2

Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.

Scott HS, Kudoh J, Wattenhofer M, Shibuya K, Berry A, Chrast R, Guipponi M, Wang J, Kawasaki K, Asakawa S, Minoshima S, Younus F, Mehdi SQ, Radhakrishna U, Papasavvas MP, Gehrig C, Rossier C, Korostishevsky M, Gal A, Shimizu N, Bonne-Tamir B, Antonarakis SE. Scott HS, et al. Among authors: antonarakis se. Nat Genet. 2001 Jan;27(1):59-63. doi: 10.1038/83768. Nat Genet. 2001. PMID: 11137999

3

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.

Masmoudi S, Antonarakis SE, Schwede T, Ghorbel AM, Gratri M, Pappasavas MP, Drira M, Elgaied-Boulila A, Wattenhofer M, Rossier C, Scott HS, Ayadi H, Guipponi M. Masmoudi S, et al. Among authors: antonarakis se. Hum Mutat. 2001 Aug;18(2):101-8. doi: 10.1002/humu.1159. Hum Mutat. 2001. PMID: 11462234

4

Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing.

Fasquelle L, Scott HS, Lenoir M, Wang J, Rebillard G, Gaboyard S, Venteo S, François F, Mausset-Bonnefont AL, Antonarakis SE, Neidhart E, Chabbert C, Puel JL, Guipponi M, Delprat B. Fasquelle L, et al. Among authors: antonarakis se. J Biol Chem. 2011 May 13;286(19):17383-97. doi: 10.1074/jbc.M110.190652. Epub 2011 Mar 21. J Biol Chem. 2011. PMID: 21454591 Free PMC article.

5

Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon.

Guipponi M, Scott HS, Chen H, Schebesta A, Rossier C, Antonarakis SE. Guipponi M, et al. Among authors: antonarakis se. Genomics. 1998 Nov 1;53(3):369-76. doi: 10.1006/geno.1998.5521. Genomics. 1998. PMID: 9799604

6

Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2.

Guipponi M, Scott HS, Hattori M, Ishii K, Sakaki Y, Antonarakis SE. Guipponi M, et al. Among authors: antonarakis se. Cytogenet Cell Genet. 1998;83(3-4):218-20. doi: 10.1159/000015182. Cytogenet Cell Genet. 1998. PMID: 10072581

7

A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y.

Chen H, Rossier C, Morris MA, Scott HS, Gos A, Bairoch A, Antonarakis SE. Chen H, et al. Among authors: antonarakis se. Hum Genet. 1999 Nov;105(5):399-409. doi: 10.1007/s004390051122. Hum Genet. 1999. PMID: 10598804

8

Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3.

Scott HS, Antonarakis SE, Mittaz L, Lalioti MD, Younus F, Mohyuddin A, Mehdi SQ, Gal A. Scott HS, et al. Among authors: antonarakis se. Adv Otorhinolaryngol. 2000;56:158-63. doi: 10.1159/000059096. Adv Otorhinolaryngol. 2000. PMID: 10868228 Review. No abstract available.

9

C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning.

Guipponi M, Brunschwig K, Chamoun Z, Scott HS, Shibuya K, Kudoh J, Delezoide AL, El Samadi S, Chettouh Z, Rossier C, Shimizu N, Mueller F, Delabar JM, Antonarakis SE. Guipponi M, et al. Among authors: antonarakis se. Genomics. 2000 Aug 15;68(1):30-40. doi: 10.1006/geno.2000.6250. Genomics. 2000. PMID: 10950924

10

Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3.

Mittaz L, Scott HS, Rossier C, Seeburg PH, Higuchi M, Antonarakis SE. Mittaz L, et al. Among authors: antonarakis se. Genomics. 1997 Apr 15;41(2):210-7. doi: 10.1006/geno.1997.4655. Genomics. 1997. PMID: 9143496

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