Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus

Autor: Wildin, R. S., Antush, M. J., Bennett, R. L., Schoof, J. M., Scott, C. R.

Mutations in the AVPR2 gene encoding the receptor for arginine vasopressin in the kidney (V2 ADHR) have been reported in patients with congenital nephrogenic diabetes insipidus, a predominantly X-linked disorder of water homeostasis. We have used res

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::32cb3f9b1c05639e9a0ffce1321b28cd
https://europepmc.org/articles/PMC1918356/

Rescue of the autoimmune scurfy mouse by partial bone marrow transplantation or by injection with T-enriched splenocytes.

Autor: SMYK-PEARSON, S. K., BAKKE, A. C., HELD, P. K., WILDIN, R. S.

Publikováno v: Clinical & Experimental Immunology; Aug2003, Vol. 133 Issue 2, p193-199, 7p

Multiple, independent restriction site polymorphisms in human DNA detected with a cDNA probe to argininosuccinate synthetase (AS)

Autor: Daiger, S P, Hoffman, N S, Wildin, R S, Su, T S

We have used a cDNA clone of the human urea cycle enzyme argininosuccinate synthetase (AS) to screen for restriction fragment length polymorphisms (RFLPs) using a large panel of restriction enzymes. The probe, pAS-1, detects from 15 to 27 human DNA f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7244029f36c98b48d97101501c5b5192
https://europepmc.org/articles/PMC1684500/

Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.

Autor: Wildin RS; Department of Molecular and Medical Genetics, Oregon Health Sciences University, Mailcode MP350, 3181 SW Sam Jackson Park Road, Portland, OR 97201-3098, USA. wild@alum.mit.edu, Smyk-Pearson S, Filipovich AH

Publikováno v: Journal of medical genetics [J Med Genet] 2002 Aug; Vol. 39 (8), pp. 537-45.

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.

Autor: Wildin RS; Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, USA. wildinr@ohsu.edu, Ramsdell F, Peake J, Faravelli F, Casanova JL, Buist N, Levy-Lahad E, Mazzella M, Goulet O, Perroni L, Bricarelli FD, Byrne G, McEuen M, Proll S, Appleby M, Brunkow ME

Publikováno v: Nature genetics [Nat Genet] 2001 Jan; Vol. 27 (1), pp. 18-20.