{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,1,31]],"date-time":"2023-01-31T21:07:26Z","timestamp":1675199246748},"reference-count":47,"publisher":"The Endocrine Society","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,9,1]]},"DOI":"10.1210\/en.2010-0196","type":"journal-article","created":{"date-parts":[[2010,7,1]],"date-time":"2010-07-01T01:10:24Z","timestamp":1277946624000},"page":"4400-4409","source":"Crossref","is-referenced-by-count":9,"title":["Isolated GH Deficiency Type II: Knockdown of the Harmful \u03943GH Recovers wt-GH Secretion in Rat Tumor Pituitary Cells"],"prefix":"10.1210","volume":"151","author":[{"given":"Didier","family":"Lochmatter","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology (D.L., A.E., V.P., C.E.F., P.E.M.), University Children\u2019s Hospital, Inselspital, CH-3010 Bern, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Molly","family":"Strom","sequence":"additional","affiliation":[{"name":"Division of Molecular Neuroendocrinology (M.S., I.C.R.), National Institute for Medical Research Mill Hill, London NW7 1AA, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andre\u0301","family":"Eble\u0301","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology (D.L., A.E., V.P., C.E.F., P.E.M.), University Children\u2019s Hospital, Inselspital, CH-3010 Bern, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vibor","family":"Petkovic","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology (D.L., A.E., V.P., C.E.F., P.E.M.), University Children\u2019s Hospital, Inselspital, CH-3010 Bern, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christa E.","family":"Flu\u0308ck","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology (D.L., A.E., V.P., C.E.F., P.E.M.), University Children\u2019s Hospital, Inselspital, CH-3010 Bern, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Bidlingmaier","sequence":"additional","affiliation":[{"name":"Endocrine Research Laboratories (M.B.), Medizinische Klinik-Innenstadt, Ludwig-Maximilians University, 80336 Munich, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iain C.","family":"Robinson","sequence":"additional","affiliation":[{"name":"Division of Molecular Neuroendocrinology (M.S., I.C.R.), National Institute for Medical Research Mill Hill, London NW7 1AA, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Primus E.","family":"Mullis","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology (D.L., A.E., V.P., C.E.F., P.E.M.), University Children\u2019s Hospital, Inselspital, CH-3010 Bern, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2010,6,30]]},"reference":[{"key":"2019041118540655000_R1","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1530\/eje.1.01797","article-title":"Genetic control of growth.","volume":"152","author":"Mullis","year":"2005","journal-title":"Eur J Endocrinol"},{"key":"2019041118540655000_R2","doi-asserted-by":"crossref","first-page":"2089","DOI":"10.1210\/jc.2004-1280","article-title":"Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study.","volume":"90","author":"Mullis","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"2019041118540655000_R3","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1126\/science.1907025","article-title":"Dimerization of human growth hormone by zinc.","volume":"253","author":"Cunningham","year":"1991","journal-title":"Science"},{"key":"2019041118540655000_R4","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1126\/science.1549776","article-title":"Human growth hormone and extracellular domain of its receptor: crystal structure of the complex.","volume":"255","author":"Vos","year":"1992","journal-title":"Science"},{"key":"2019041118540655000_R5","doi-asserted-by":"crossref","first-page":"3685","DOI":"10.1242\/jcs.114.20.3685","article-title":"Misfolded growth hormone causes fragmentation of the Golgi apparatus and disrupts endoplasmic reticulum-to-Golgi traffic.","volume":"114","author":"Graves","year":"2001","journal-title":"J Cell Sci"},{"key":"2019041118540655000_R6","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1210\/en.2002-220847","article-title":"Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice.","volume":"144","author":"McGuinness","year":"2003","journal-title":"Endocrinology"},{"key":"2019041118540655000_R7","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1111\/j.1365-2826.2007.01602.x","article-title":"Mutant and misfolded human growth hormone is rapidly degraded through the proteasomal degradation pathway in a cellular model for isolated growth hormone deficiency type II.","volume":"19","author":"Kannenberg","year":"2007","journal-title":"J Neuroendocrinol"},{"key":"2019041118540655000_R8","first-page":"1261","article-title":"Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein.","volume":"79","author":"Cogan","year":"1994","journal-title":"J Clin Endocrinol Metab"},{"key":"2019041118540655000_R9","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1210\/jc.2002-020269","article-title":"A novel IVS2\u20132A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population.","volume":"88","author":"Fofanova","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"2019041118540655000_R10","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1054\/ghir.2001.0251","article-title":"A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency.","volume":"11","author":"Katsumata","year":"2001","journal-title":"Growth Horm IGF Res"},{"key":"2019041118540655000_R11","doi-asserted-by":"crossref","first-page":"1491","DOI":"10.1093\/hmg\/7.9.1491","article-title":"Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA.","volume":"7","author":"McCarthy","year":"1998","journal-title":"Hum Mol Genet"},{"key":"2019041118540655000_R12","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1002\/humu.10168","article-title":"Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature.","volume":"21","author":"Millar","year":"2003","journal-title":"Hum Mutat"},{"key":"2019041118540655000_R13","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1210\/jcem.87.2.8236","article-title":"An exon splice enhancer mutation causes autosomal dominant GH deficiency.","volume":"87","author":"Moseley","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"2019041118540655000_R14","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1034\/j.1399-0004.2002.610310.x","article-title":"An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II.","volume":"61","author":"Takahashi","year":"2002","journal-title":"Clin Genet"},{"key":"2019041118540655000_R15","first-page":"2134","article-title":"Inhibition of growth hormone (GH) secretion by a mutant GH-I gene product in neuroendocrine cells containing secretory granules: an implication for isolated GH deficiency inherited in an autosomal dominant manner.","volume":"84","author":"Hayashi","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"key":"2019041118540655000_R16","first-page":"132","article-title":"Impact of del32-71-GH (exon 3 skipped GH) on intracellular GH distribution, secretion and cell viability: a quantitative confocal microscopy analysis.","volume":"65","author":"Salemi","year":"2006","journal-title":"Horm Res"},{"key":"2019041118540655000_R17","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1177\/0009922806293924","article-title":"Twenty years of recombinant human growth hormone in children: relevance to pediatric care providers.","volume":"46","author":"Hardin","year":"2007","journal-title":"Clin Pediatr"},{"key":"2019041118540655000_R18","doi-asserted-by":"crossref","first-page":"3664","DOI":"10.1210\/jc.2002-021938","article-title":"Reduced longevity in untreated patients with isolated growth hormone deficiency.","volume":"88","author":"Besson","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"2019041118540655000_R19","doi-asserted-by":"crossref","first-page":"2988","DOI":"10.1210\/en.2003-1724","article-title":"GH1 splicing is regulated by multiple enhancers whose mutation produces a dominant-negative GH isoform that can be degraded by allele-specific small interfering RNA (siRNA).","volume":"145","author":"Ryther","year":"2004","journal-title":"Endocrinology"},{"key":"2019041118540655000_R20","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1210\/en.2007-1360","article-title":"Rescue of pituitary function in a mouse model of isolated growth hormone deficiency type II by RNA interference.","volume":"149","author":"Shariat","year":"2008","journal-title":"Endocrinology"},{"key":"2019041118540655000_R21","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1038\/mt.2008.231","article-title":"Artificial microRNAs as siRNA shuttles: improved safety as compared to shRNAs in vitro and in vivo.","volume":"17","author":"Boudreau","year":"2009","journal-title":"Mol Ther"},{"key":"2019041118540655000_R22","doi-asserted-by":"crossref","first-page":"13212","DOI":"10.1073\/pnas.0506306102","article-title":"A lentiviral microRNA-based system for single-copy polymerase II-regulated RNA interference in mammalian cells.","volume":"102","author":"Stegmeier","year":"2005","journal-title":"Proc Natl Acad Sci USA"},{"key":"2019041118540655000_R23","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/gt.2008.138","article-title":"Doxycycline-controlled splicing modulation by regulated antisense U7 snRNA expression cassettes.","volume":"16","author":"Marquis","year":"2009","journal-title":"Gene Ther"},{"key":"2019041118540655000_R24","doi-asserted-by":"crossref","first-page":"4144","DOI":"10.1182\/blood-2007-03-078493","article-title":"A microRNA-regulated lentiviral vector mediates stable correction of hemophilia B mice.","volume":"110","author":"Brown","year":"2007","journal-title":"Blood"},{"key":"2019041118540655000_R25","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1126\/science.288.5466.669","article-title":"Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease.","volume":"288","author":"Cavazzana-Calvo","year":"2000","journal-title":"Science"},{"key":"2019041118540655000_R26","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1677\/joe.0.1400455","article-title":"Secretory characteristics and phenotypic plasticity of growth hormone- and prolactin-producing cell lines.","volume":"140","author":"Kineman","year":"1994","journal-title":"J Endocrinol"},{"key":"2019041118540655000_R27","doi-asserted-by":"crossref","first-page":"3941","DOI":"10.1210\/jcem.86.8.7723","article-title":"Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion.","volume":"86","author":"Deladoe\u0308y","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"2019041118540655000_R28","first-page":"2098","article-title":"Growth hormone (GH) receptor blockade with a PEG-modified GH (B2036-PEG) lowers serum insulin-like growth factor-I but does not acutely stimulate serum GH.","volume":"84","author":"Thorner","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"key":"2019041118540655000_R29","first-page":"2613","article-title":"Immunofunctional assay of human growth hormone (hGH) in serum: a possible consensus for quantitative hGH measurement.","volume":"81","author":"Strasburger","year":"1996","journal-title":"J Clin Endocrinol Metab"},{"key":"2019041118540655000_R30","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1083\/jcb.115.3.625","article-title":"Association of Rab3A with synaptic vesicles at late stages of the secretory pathway.","volume":"115","author":"Matteoli","year":"1991","journal-title":"J Cell Biol"},{"key":"2019041118540655000_R31","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1530\/eje.1.02041","article-title":"Variability of isolated autosomal dominant GH deficiency (IGHD II): impact of the P89L GH mutation on clinical follow-up and GH secretion.","volume":"153","author":"Salemi","year":"2005","journal-title":"Eur J Endocrinol"},{"key":"2019041118540655000_R32","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1007\/s00439-003-0949-x","article-title":"Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II.","volume":"113","author":"Ryther","year":"2003","journal-title":"Hum Genet"},{"key":"2019041118540655000_R33","doi-asserted-by":"crossref","first-page":"4728","DOI":"10.1210\/jc.2009-0746","article-title":"A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II.","volume":"94","author":"Hamid","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"2019041118540655000_R34","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1038\/sj.gt.3302356","article-title":"siRNA therapeutics: big potential from small RNAs.","volume":"12","author":"Ryther","year":"2005","journal-title":"Gene Ther"},{"key":"2019041118540655000_R35","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1530\/eje.1.02293","article-title":"Evolution of gonadotropin deficiency in a patient with type II autosomal dominant GH deficiency.","volume":"155","author":"Turton","year":"2006","journal-title":"Eur J Endocrinol"},{"key":"2019041118540655000_R36","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1210\/en.2006-0772","article-title":"Isolated autosomal dominant growth hormone deficiency: stimulating mutant GH-1 gene expression drives GH-1 splice-site selection, cell proliferation, and apoptosis.","volume":"148","author":"Salemi","year":"2007","journal-title":"Endocrinology"},{"key":"2019041118540655000_R37","doi-asserted-by":"crossref","first-page":"4051","DOI":"10.1038\/sj.emboj.7600385","article-title":"MicroRNA genes are transcribed by RNA polymerase II.","volume":"23","author":"Lee","year":"2004","journal-title":"EMBO J"},{"key":"2019041118540655000_R38","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1038\/nrm2632","article-title":"Biogenesis of small RNAs in animals.","volume":"10","author":"Kim","year":"2009","journal-title":"Nat Rev Mol Cell Biol"},{"key":"2019041118540655000_R39","doi-asserted-by":"crossref","first-page":"5154","DOI":"10.1093\/nar\/gkm543","article-title":"Combinatorial delivery of small interfering RNAs reduces RNAi efficacy by selective incorporation into RISC.","volume":"35","author":"Castanotto","year":"2007","journal-title":"Nucleic Acids Res"},{"key":"2019041118540655000_R40","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1038\/nature04791","article-title":"Fatality in mice due to oversaturation of cellular microRNA\/short hairpin RNA pathways.","volume":"441","author":"Grimm","year":"2006","journal-title":"Nature"},{"key":"2019041118540655000_R41","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1159\/000166609","article-title":"Effect of insulin-like growth factor-I gene therapy on the somatotropic axis in experimental prolactinomas.","volume":"190","author":"Co\u0301nsole","year":"2009","journal-title":"Cells Tissues Organs"},{"key":"2019041118540655000_R42","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/s11064-009-0039-0","article-title":"Reduced somatostatin in hypothalamus of young male mouse increases local but not circulatory GH.","volume":"35","author":"Hao","year":"2010","journal-title":"Neurochem Res"},{"key":"2019041118540655000_R43","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1159\/000094316","article-title":"Gene therapy in the neuroendocrine system.","volume":"35","author":"Heren\u0303u\u0301","year":"2006","journal-title":"Front Horm Res"},{"key":"2019041118540655000_R44","doi-asserted-by":"crossref","first-page":"449","DOI":"10.2174\/156652308786848003","article-title":"Strategies for targeting lentiviral vectors.","volume":"8","author":"Frecha","year":"2008","journal-title":"Curr Gene Ther"},{"key":"2019041118540655000_R45","doi-asserted-by":"crossref","first-page":"8438","DOI":"10.1128\/JVI.70.12.8438-8443.1996","article-title":"A single amino acid change in the glycoprotein of lymphocytic choriomeningitis virus is associated with the ability to cause growth hormone deficiency syndrome.","volume":"70","author":"Teng","year":"1996","journal-title":"J Virol"},{"key":"2019041118540655000_R46","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1006\/viro.1996.0460","article-title":"Suppression of lymphocytic choriomeningitis virus\u2013induced growth hormone deficiency syndrome by disease-negative virus variants.","volume":"223","author":"Teng","year":"1996","journal-title":"Virology"},{"key":"2019041118540655000_R47","doi-asserted-by":"crossref","first-page":"1488","DOI":"10.1128\/JVI.76.3.1488-1495.2002","article-title":"Oncoretrovirus and lentivirus vectors pseudotyped with lymphocytic choriomeningitis virus glycoprotein: generation, concentration, and broad host range.","volume":"76","author":"Beyer","year":"2002","journal-title":"J Virol"}],"container-title":["Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/endo\/article-pdf\/151\/9\/4400\/9013114\/endo4400.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,30]],"date-time":"2021-10-30T12:49:14Z","timestamp":1635598154000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/endo\/article\/151\/9\/4400\/2456923"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,6,30]]},"references-count":47,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2010,6,30]]},"published-print":{"date-parts":[[2010,9,1]]}},"URL":"https:\/\/doi.org\/10.1210\/en.2010-0196","relation":{},"ISSN":["0013-7227","1945-7170"],"issn-type":[{"value":"0013-7227","type":"print"},{"value":"1945-7170","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,6,30]]}}}