Molecular Analysis of the Androgen-Receptor Gene in a Family with Receptor-Positive Partial Androgen Insensitivity: An Unusual Type of Intronic Mutation

Autor: D.P.E. Satijn, Hennie T. Brüggenwirth, J. A. Grootegoed, M.C.T. Verleun-Mooijman, Jan Trapman, Annemie L.M. Boehmer, S. Ramnarain, Albert O. Brinkmann

Publikováno v: American Journal of Human Genetics, 1067-1077. Cell Press
ISSUE=61;STARTPAGE=1067;ENDPAGE=1077;ISSN=0002-9297;TITLE=American Journal of Human Genetics

Summary In the coding part and the intron-exon boundaries of the androgen-receptor gene of a patient with partial androgen insensitivity, no mutation was found. The androgen receptor of this patient displayed normal ligand-binding parameters and migr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01c1b4a663133924729a2e63ae4b9162

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations

Autor: Vincenzo Bonifati, Sylvia A. Eshuis, Klaus L. Leenders, Cristina Tassorelli, Jan Pieter M. Stroy, Wilson F. Abdo, Klaartje Van Engelen, Leonardo Lopiano, Saskia A. J. Lesnik-Oberstein, Peter Elfferich, Agnita J.W. Boon, Jan C.M. Zijlmans, J. Anneke Maat-Kievit, Bart P.C. van de Warrenburg, Dennis Dooijes, Rick van Minkelen, M.C.T. Verleun-Mooijman, Ad Hovestadt, John C. van Swieten, Corien C. Verschuuren-Bemelmans

Publikováno v: Neurogenetics, 12, 263-71
Neurogenetics, 12(4), 263-271. Springer-Verlag
Neurogenetics, 12, 4, pp. 263-71
neurogenetics, 12(4), 263-271
Neurogenetics, 12(4), 263-271. SPRINGER
Neurogenetics, 12(4), 263-271. Springer Verlag
Neurogenetics
Elfferich, P, Verleun-Mooijman, M C, Maat-Kievit, J A, Van De Warrenburg, B P C, Abdo, W F, Eshuis, S A, Leenders, K L, Hovestadt, A, Zijlmans, J C M, Stroy, J P M, Van Swieten, J C, Boon, A J W, Van Engelen, K, Verschuuren-Bemelmans, C C, Lesnik-Oberstein, S A J, Tassorelli, C, Lopiano, L, Bonifati, V, Dooijes, D & Van Minkelen, R 2011, ' Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations ', Neurogenetics, vol. 12, no. 4, pp. 263-271 . https://doi.org/10.1007/s10048-011-0302-9

Item does not contain fulltext Early-onset Parkinson's disease (EOPD) has been associated with recessive mutations in parkin (PARK2). About half of the mutations found in parkin are genomic rearrangements, i.e., large deletions or duplications. Altho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87fec50ad5716d5c60771bbe70ac747e
http://hdl.handle.net/2066/97688

Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability

Autor: M.C.T. Verleun-Mooijman, Annemie L. M. Boehmer, Petra E. de Ruiter, Martinus F. Niermeijer, Stenvert L. S. Drop, Albert O. Brinkmann, Rien J.M. Nijman

Publikováno v: The Journal of clinical endocrinology and metabolism. 86(3)

Mutations in the androgen receptor (AR) gene result in a wide range of phenotypes of the androgen insensitivity syndrome (AIS). Inter- and intrafamilial differences in the phenotypic expression of identical AR mutations are known, suggesting modifyin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c11bac1359bcfcd15fc0e16719c8ab41
https://pubmed.ncbi.nlm.nih.gov/11238515

Threonine on amino acid position 868 in the human androgen receptor is essential for androgen binding specificity and functional activity

Autor: Albert O. Brinkmann, M.C.T. Verleun-Mooijman, Jan Trapman, C. Ris-Stalpers

Publikováno v: Biochemical and biophysical research communications, 196(1), 173-180. Academic Press Inc.

The human androgen receptor gene in the androgen sensitive prostate tumor cell line (LNCaP) contains a point mutation in codon 868 resulting in the substitution of threonine by alanine. This amino acid change is responsible for the increased affinity

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f17c08ffe4cce8ce5e36d07cf4bebf25
https://pure.amc.nl/en/publications/threonine-on-amino-acid-position-868-in-the-human-androgen-receptor-is-essential-for-androgen-binding-specificity-and-functional-activity(c038eb1e-ee90-440c-abcd-d1aa6607e01f).html

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