Abstract:
:A single-base substitution in the coding region of the androgen receptor (AR) gene caused complete androgen insensitivity in a patient with 46,XY karyotype. The mutation was a T-to-G transition in exon 6 and changed the codon 807 from ATG (methionine) to AGG (arginine) in the hormone-binding domain of the protein. The mutation was inserted into the wild-type human AR cDNA and the resulting cDNA expressed in CV-1 cells. Native and mutated AR proteins synthesized in recipient cells had identical molecular masses. Ligand-binding activity of the mutant receptor was less than 5% of that of the wild-type AR. The mutant's interaction with an androgen-response element in vitro was identical to that of the native aporeceptor; however, it did not transactivate a reporter gene construct in transfected CV-1 cells. Androgen insensitivity in our patient was thus due to altered structure of the receptor's steroid-binding region, which prevented the mutated AR from gaining a transcriptionally active form in vivo.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Adeyemo O,Kallio PJ,Palvimo JJ,Kontula K,Jänne OAdoi
10.1093/hmg/2.11.1809subject
Has Abstractpub_date
1993-11-01 00:00:00pages
1809-12issue
11eissn
0964-6906issn
1460-2083journal_volume
2pub_type
杂志文章abstract::Disruption of the blood-brain barrier (BBB) is a serious complication frequently encountered in neurodegenerative disorders. Infantile neuronal ceroid lipofuscinosis (INCL) is a devastating childhood neurodegenerative lysosomal storage disorder caused by palmitoyl-protein thioesterase-1 (PPT1) deficiency. It remains u...
journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
pub_type: 杂志文章,meta分析
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更新日期:2005-08-01 00:00:00
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/4.10.1875
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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pub_type: 杂志文章
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更新日期:1994-06-01 00:00:00
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journal_title:Human molecular genetics
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doi:10.1093/hmg/ddi021
更新日期:2005-01-15 00:00:00
abstract::The rate-limiting step of dietary calcium absorption in the intestine requires the brush border calcium entry channel TRPV6. The TRPV6 gene was completely sequenced in 170 renal calcium stone patients. The frequency of an ancestral TRPV6 haplotype consisting of three non-synonymous polymorphisms (C157R, M378V, M681T) ...
journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:2008-06-01 00:00:00
abstract::Junctional epidermolysis bullosa inversa is an autosomal recessive blistering skin disease with an ultrastructural hemidesmosome defect similar to that of the Herlitz disease, yet with a non-lethal and different course of the disease. Its delineation is based on five geographically associated Norwegian families where ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/3.8.1387
更新日期:1994-08-01 00:00:00
abstract::The recently described DNA replication-based mechanisms of fork stalling and template switching (FoSTeS) and microhomology-mediated break-induced replication (MMBIR) were previously shown to catalyze complex exonic, genic and genomic rearrangements. By analyzing a large number of isochromosomes of the long arm of chro...
journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:2011-05-15 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddw204
更新日期:2016-08-15 00:00:00
abstract::Two brothers presented with a clinical picture characterized by sideroblastic anemia, mild pancreatic insufficiency and progressive muscle weakness. The presence of an associated permanent basal lactic acidemia raised the suspicion of a mitochondrial disease. A muscle biopsy performed in both siblings proved the prese...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/3.11.1945
更新日期:1994-11-01 00:00:00
abstract::Craniofrontonasal syndrome (CFNS), an X-linked disorder caused by loss-of-function mutations of EFNB1, exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, craniosynostosis and additional minor malformations, but males are usually more mildly affected with ...
journal_title:Human molecular genetics
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doi:10.1093/hmg/ddt015
更新日期:2013-04-15 00:00:00
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journal_title:Human molecular genetics
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更新日期:2013-02-01 00:00:00
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journal_title:Human molecular genetics
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更新日期:2015-12-15 00:00:00
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journal_title:Human molecular genetics
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更新日期:2010-01-15 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:2010-06-01 00:00:00
abstract::Forty-nine individuals have been identified with deletions or translocations involving the short arm of chromosome 5. While most display the classical phenotype of the cri-du-chat syndrome, several of the patients do not have the syndrome or have only a subset of the clinical features. Somatic cell hybrids containing ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/3.2.247
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journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/10.10.1093
更新日期:2001-05-01 00:00:00
abstract::The infantile neuronal ceroid lipofuscinosis (INCL), a rare (one in 100 000 births) but one of the most lethal inherited neurodegenerative storage disorders of childhood, is caused by inactivating mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene. PPT1 cleaves thioester linkages in s-acylated (palmitoylate...
journal_title:Human molecular genetics
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更新日期:2006-05-15 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
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