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Items: 11

1.

ALG9 Mutation Carriers Develop Kidney and Liver Cysts.

Besse W, Chang AR, Luo JZ, Triffo WJ, Moore BS, Gulati A, Hartzel DN, Mane S; Regeneron Genetics Center, Torres VE, Somlo S, Mirshahi T.

J Am Soc Nephrol. 2019 Aug 8. pii: ASN.2019030298. doi: 10.1681/ASN.2019030298. [Epub ahead of print]

PMID:
31395617
2.

Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.

Cornec-Le Gall E, Olson RJ, Besse W, Heyer CM, Gainullin VG, Smith JM, Audrézet MP, Hopp K, Porath B, Shi B, Baheti S, Senum SR, Arroyo J, Madsen CD, Férec C, Joly D, Jouret F, Fikri-Benbrahim O, Charasse C, Coulibaly JM, Yu AS, Khalili K, Pei Y, Somlo S, Le Meur Y, Torres VE; Genkyst Study Group; HALT Progression of Polycystic Kidney Disease Group; Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease, Harris PC.

Am J Hum Genet. 2018 May 3;102(5):832-844. doi: 10.1016/j.ajhg.2018.03.013. Epub 2018 Apr 26.

3.

A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family.

Besse W, Choi J, Ahram D, Mane S, Sanna-Cherchi S, Torres V, Somlo S.

Hum Mutat. 2018 Mar;39(3):378-382. doi: 10.1002/humu.23383. Epub 2018 Jan 24.

4.

Isolated polycystic liver disease genes define effectors of polycystin-1 function.

Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S.

J Clin Invest. 2017 Sep 1;127(9):3558. doi: 10.1172/JCI96729. Epub 2017 Sep 1.

5.

Isolated polycystic liver disease genes define effectors of polycystin-1 function.

Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S.

J Clin Invest. 2017 May 1;127(5):1772-1785. doi: 10.1172/JCI90129. Epub 2017 Apr 4. Erratum in: J Clin Invest. 2017 Sep 1;127(9):3558.

6.

Collapsing glomerulopathy in a young woman with APOL1 risk alleles following acute parvovirus B19 infection: a case report investigation.

Besse W, Mansour S, Jatwani K, Nast CC, Brewster UC.

BMC Nephrol. 2016 Sep 6;17(1):125. doi: 10.1186/s12882-016-0330-7.

7.

Ectopic expression of peripheral-tissue antigens in the thymic epithelium: probabilistic, monoallelic, misinitiated.

Villaseñor J, Besse W, Benoist C, Mathis D.

Proc Natl Acad Sci U S A. 2008 Oct 14;105(41):15854-9. doi: 10.1073/pnas.0808069105. Epub 2008 Oct 3.

8.

Signatures of strong population differentiation shape extended haplotypes across the human CD28, CTLA4, and ICOS costimulatory genes.

Butty V, Roy M, Sabeti P, Besse W, Benoist C, Mathis D.

Proc Natl Acad Sci U S A. 2007 Jan 9;104(2):570-5. Epub 2006 Dec 29.

9.

Altered natural killer cells in type 1 diabetic patients.

Rodacki M, Svoren B, Butty V, Besse W, Laffel L, Benoist C, Mathis D.

Diabetes. 2007 Jan;56(1):177-85.

10.

Variation in IL-1beta gene expression is a major determinant of genetic differences in arthritis aggressivity in mice.

Ohmura K, Johnsen A, Ortiz-Lopez A, Desany P, Roy M, Besse W, Rogus J, Bogue M, Puech A, Lathrop M, Mathis D, Benoist C.

Proc Natl Acad Sci U S A. 2005 Aug 30;102(35):12489-94. Epub 2005 Aug 19.

11.

Lower limb proximal amputation for a tumour: a retrospective study of 12 patients.

Ferrapie AL, Brunel P, Besse W, Altermatt E, Bontoux L, Richard I.

Prosthet Orthot Int. 2003 Dec;27(3):179-85.

PMID:
14727698

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