IMAGe association and congenital adrenal hypoplasia: No disease-causing mutations found in the ACD gene
The spontaneous mouse mutant adrenocortical dysplasia ( acd) is characterized by defects in the adrenals, kidneys, and gonads of adult mutant mice and by caudal dysgenesis and vertebral segmentation defects in acd embryos. This association of defects mirrors those identified in patients with known o...
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| Veröffentlicht in: | Molecular genetics and metabolism 2006-05, Vol.88 (1), p.66-70 |
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| container_title | Molecular genetics and metabolism |
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| creator | Hutz, Janna E. Krause, Andrea S. Achermann, John C. Vilain, Eric Tauber, Maïthé Lecointre, Claudine McCabe, Edward R.B. Hammer, Gary D. Keegan, Catherine E. |
| description | The spontaneous mouse mutant adrenocortical dysplasia (
acd) is characterized by defects in the adrenals, kidneys, and gonads of adult mutant mice and by caudal dysgenesis and vertebral segmentation defects in
acd embryos. This association of defects mirrors those identified in patients with known or suspected abnormalities in adrenocortical development, including adrenal hypoplasia congenita and IMAGe association. The identification of the
Acd gene in mice has prompted the study of its human homolog
ACD, which has recently been shown to be a regulator of telomere length. Sequencing of
ACD in 15 patients revealed no coding mutations, but three novel SNPs were identified. |
| doi_str_mv | 10.1016/j.ymgme.2006.01.006 |
| format | Article |
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acd) is characterized by defects in the adrenals, kidneys, and gonads of adult mutant mice and by caudal dysgenesis and vertebral segmentation defects in
acd embryos. This association of defects mirrors those identified in patients with known or suspected abnormalities in adrenocortical development, including adrenal hypoplasia congenita and IMAGe association. The identification of the
Acd gene in mice has prompted the study of its human homolog
ACD, which has recently been shown to be a regulator of telomere length. Sequencing of
ACD in 15 patients revealed no coding mutations, but three novel SNPs were identified.</description><identifier>ISSN: 1096-7192</identifier><identifier>EISSN: 1096-7206</identifier><identifier>DOI: 10.1016/j.ymgme.2006.01.006</identifier><identifier>PMID: 16504561</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>ACD ; Adrenal hypoplasia ; Adrenal hypoplasia congenita ; Adrenal insufficiency ; Adrenal Insufficiency - congenital ; Adrenal Insufficiency - genetics ; Adrenocortical dysplasia ; Animals ; Bone Diseases, Developmental - genetics ; Fetal Growth Retardation - genetics ; Humans ; IMAGe association ; Mice ; Mice, Mutant Strains ; Polymorphism, Single Nucleotide ; Syndrome</subject><ispartof>Molecular genetics and metabolism, 2006-05, Vol.88 (1), p.66-70</ispartof><rights>2006 Elsevier Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c419t-a326cec5da7d0b9a059c7e918311c3feb049161d4ee16f0168bf0c0ee7aef5b3</citedby><cites>FETCH-LOGICAL-c419t-a326cec5da7d0b9a059c7e918311c3feb049161d4ee16f0168bf0c0ee7aef5b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.ymgme.2006.01.006$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16504561$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hutz, Janna E.</creatorcontrib><creatorcontrib>Krause, Andrea S.</creatorcontrib><creatorcontrib>Achermann, John C.</creatorcontrib><creatorcontrib>Vilain, Eric</creatorcontrib><creatorcontrib>Tauber, Maïthé</creatorcontrib><creatorcontrib>Lecointre, Claudine</creatorcontrib><creatorcontrib>McCabe, Edward R.B.</creatorcontrib><creatorcontrib>Hammer, Gary D.</creatorcontrib><creatorcontrib>Keegan, Catherine E.</creatorcontrib><title>IMAGe association and congenital adrenal hypoplasia: No disease-causing mutations found in the ACD gene</title><title>Molecular genetics and metabolism</title><addtitle>Mol Genet Metab</addtitle><description>The spontaneous mouse mutant adrenocortical dysplasia (
acd) is characterized by defects in the adrenals, kidneys, and gonads of adult mutant mice and by caudal dysgenesis and vertebral segmentation defects in
acd embryos. This association of defects mirrors those identified in patients with known or suspected abnormalities in adrenocortical development, including adrenal hypoplasia congenita and IMAGe association. The identification of the
Acd gene in mice has prompted the study of its human homolog
ACD, which has recently been shown to be a regulator of telomere length. Sequencing of
ACD in 15 patients revealed no coding mutations, but three novel SNPs were identified.</description><subject>ACD</subject><subject>Adrenal hypoplasia</subject><subject>Adrenal hypoplasia congenita</subject><subject>Adrenal insufficiency</subject><subject>Adrenal Insufficiency - congenital</subject><subject>Adrenal Insufficiency - genetics</subject><subject>Adrenocortical dysplasia</subject><subject>Animals</subject><subject>Bone Diseases, Developmental - genetics</subject><subject>Fetal Growth Retardation - genetics</subject><subject>Humans</subject><subject>IMAGe association</subject><subject>Mice</subject><subject>Mice, Mutant Strains</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Syndrome</subject><issn>1096-7192</issn><issn>1096-7206</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkUtv1DAUhS0Eog_4BUiVV-wS7s3DiZFYjAb6kApsurcc-2bqUWIPcVJp_n3dzlTdAatzF985VzqHsU8IOQKKL9t8P25GygsAkQPmSd6wUwQpsqYA8fblRlmcsLMYtwCItazesxMUNVS1wFO2ufm5uiKuYwzG6dkFz7W33AS_Ie9mPXBtJ_JJ7_e7sBt0dPor_xW4dZF0pMzoJTq_4eMyP9sj78OSEpzn8z3x1fo7T0n0gb3r9RDp41HP2d3lj7v1dXb7--pmvbrNTIVyznRZCEOmtrqx0EkNtTQNSWxLRFP21EElUaCtiFD0qYW268EAUaOpr7vynH0-xO6m8GehOKvRRUPDoD2FJSrRtG1TQfNPMBUomkIW_wGWVVHLNoHlATRTiHGiXu0mN-pprxDU02Bqq54HU0-DKUCVJLkujvFLN5J99RwXSsC3A0CptQdHk4rGkTdk3URmVja4vz54BCHvqG0</recordid><startdate>20060501</startdate><enddate>20060501</enddate><creator>Hutz, Janna E.</creator><creator>Krause, Andrea S.</creator><creator>Achermann, John C.</creator><creator>Vilain, Eric</creator><creator>Tauber, Maïthé</creator><creator>Lecointre, Claudine</creator><creator>McCabe, Edward R.B.</creator><creator>Hammer, Gary D.</creator><creator>Keegan, Catherine E.</creator><general>Elsevier Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20060501</creationdate><title>IMAGe association and congenital adrenal hypoplasia: No disease-causing mutations found in the ACD gene</title><author>Hutz, Janna E. ; 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acd) is characterized by defects in the adrenals, kidneys, and gonads of adult mutant mice and by caudal dysgenesis and vertebral segmentation defects in
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ACD, which has recently been shown to be a regulator of telomere length. Sequencing of
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| language | eng |
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| source | MEDLINE; Access via ScienceDirect (Elsevier) |
| subjects | ACD Adrenal hypoplasia Adrenal hypoplasia congenita Adrenal insufficiency Adrenal Insufficiency - congenital Adrenal Insufficiency - genetics Adrenocortical dysplasia Animals Bone Diseases, Developmental - genetics Fetal Growth Retardation - genetics Humans IMAGe association Mice Mice, Mutant Strains Polymorphism, Single Nucleotide Syndrome |
| title | IMAGe association and congenital adrenal hypoplasia: No disease-causing mutations found in the ACD gene |
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