المؤلفون: Torres Ferraz, Rosa

المساهمون: University/Department: Universitat de Barcelona. Facultat de Farmàcia i Ciències de l'Alimentació

مرشدي الرسالة: Campàs Moya, Clara, Ibáñez Toda, Lourdes, García López, María Luisa

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Malalties dels ovaris, Enfermedades de los ovarios, Ovary diseases, Endocrinologia, Endocrinología, Endocrinology, Farmacologia obstètrica, Farmacología obstétrica, Obstetric pharmacology, Ciències de la Salut

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/664862

المؤلفون: Patiño Molano, Liliana Catherine

المساهمون: Laissue, Paul, Matheus, Luisa Marina, Mastronardi, Claudio, Curtidor Castellanos, Hernando

المصدر: Persani L, Rossetti R, Cacciatore C. Genes involved in human premature ovarian failure. J Mol Endocrinol. 2010 Nov;45(5):257–79.
European Society for Human Reproduction and Embryology (ESHRE) Guideline Group on POI, Webber L, Davies M, Anderson R, Bartlett J, Braat D, et al. ESHRE Guideline: management of women with premature ovarian insufficiency. Hum Reprod. 2016 May;31(5):926–37
Bilgin EM, Kovanci E. Genetics of premature ovarian failure. Curr Opin Obstet Gynecol. 2015 Jun;27(3):167–74
Luborsky JL, Meyer P, Sowers MF, Gold EB, Santoro N. Premature menopause in a multi-ethnic population study of the menopause transition. Hum Reprod. 2003 Jan;18(1):199–206
Chang SH, Kim C-S, Lee K-S, Kim H, Yim SV, Lim YJ, et al. Premenopausal factors influencing premature ovarian failure and early menopause. Maturitas. 2007 Sep 20;58(1):19–30
Shelling A, Chapman C, Cree L. The genetics of premature ovarian failure: current perspectives. Int J Womens Health. 2015 Sep;799
Laissue P. Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing. Mol Cell Endocrinol. 2015 Aug 15;411:243–57
Laissue P. The molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencing. Mol Cell Endocrinol. 2018 Jan;460:170–80
Dube JL, Wang P, Elvin J, Lyons KM, Celeste AJ, Matzuk MM. The bone morphogenetic protein 15 gene is X-linked and expressed in oocytes. Mol Endocrinol. 1998 Dec;12(12):1809–17
Di Pasquale E, Beck-Peccoz P, Persani L. Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. Am J Hum Genet. 2004 Jul;75(1):106–11
Otsuka F, Shimasaki S. A Novel Function of Bone Morphogenetic Protein-15 in the Pituitary: Selective Synthesis and Secretion of FSH by Gonadotropes. Endocrinology. 2002 Dec;143(12):4938–41
Otsuka F, Shimasaki S. A negative feedback system between oocyte bone morphogenetic protein 15 and granulosa cell kit ligand: its role in regulating granulosa cell mitosis. Proc Natl Acad Sci U S A. 2002 Jun 11;99(12):8060–5
Otsuka F, Yamamoto S, Erickson GF, Shimasaki S. Bone Morphogenetic Protein-15 Inhibits Follicle-stimulating Hormone (FSH) Action by Suppressing FSH Receptor Expression. J Biol Chem. 2001 Apr 6;276(14):11387–92
Caixeta ES, Sutton-McDowall ML, Gilchrist RB, Thompson JG, Price CA, Machado MF, et al. Bone morphogenetic protein 15 and fibroblast growth factor 10 enhance cumulus expansion, glucose uptake, and expression of genes in the ovulatory cascade during in vitro maturation of bovine cumulus-oocyte complexes. Reproduction. 2013 Jul;146(1):27–35
Su Y-Q, Sugiura K, Wigglesworth K, O’Brien MJ, Affourtit JP, Pangas SA, et al. Oocyte regulation of metabolic cooperativity between mouse cumulus cells and oocytes: BMP15 and GDF9 control cholesterol biosynthesis in cumulus cells. Development. 2007 Nov 21;135(1):111–21
Persani L, Rossetti R, Di Pasquale E, Cacciatore C, Fabre S. The fundamental role of bone morphogenetic protein 15 in ovarian function and its involvement in female fertility disorders. Hum Reprod Update. 2014 Nov 1;20(6):869–83
Shimasaki S, Moore RK, Otsuka F, Erickson GF. The bone morphogenetic protein system in mammalian reproduction. Endocr Rev. 2004 Feb;25(1):72–101
Hashimoto O, Moore RK, Shimasaki S. Posttranslational processing of mouse and human BMP-15: Potential implication in the determination of ovulation quota. Proc Natl Acad Sci. 2005 Apr 12;102(15):5426–31
Peng J, Li Q, Wigglesworth K, Rangarajan A, Kattamuri C, Peterson RT, et al. Growth differentiation factor 9:bone morphogenetic protein 15 heterodimers are potent regulators of ovarian functions. Proc Natl Acad Sci. 2013 Feb 19;110(8):E776–85
Galloway SM, McNatty KP, Cambridge LM, Laitinen MP, Juengel JL, Jokiranta TS, et al. Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner. Nat Genet. 2000 Jul;25(3):279–83
Yan C, Wang P, DeMayo J, DeMayo FJ, Elvin JA, Carino C, et al. Synergistic roles of bone morphogenetic protein 15 and growth differentiation factor 9 in ovarian function. Mol Endocrinol. 2001 Jun;15(6):854–66
Wang B, Wen Q, Ni F, Zhou S, Wang J, Cao Y, et al. Analyses of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) mutation in Chinese women with premature ovarian failure. Clin Endocrinol (Oxf). 2010;72(1):135–6
Ledig S, Röpke A, Haeusler G, Hinney B, Wieacker P. BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure. Am J Obstet Gynecol. 2008;198(1):1–5
Tiotiu D, Alvaro Mercadal B, Imbert R, Verbist J, Demeestere I, De Leener A, et al. Variants of the BMP15 gene in a cohort of patients with premature ovarian failure. Hum Reprod. 2010;25(6):1581–7
Laissue P, Christin-Maitre S, Touraine P, Kuttenn F, Ritvos O, Aittomaki K, et al. Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure. Eur J Endocrinol. 2006;154(5):739–44
Di Pasquale E, Rossetti R, Marozzi A, Bodega B, Borgato S, Cavallo L, et al. Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure. J Clin Endocrinol Metab. 2006;91(5):1976–9
Dixit H, Rao LK, Padmalatha V V, Kanakavalli M, Deenadayal M, Gupta N, et al. Missense mutations in the BMP15 gene are associated with ovarian failure. Hum Genet. 2006 May;119(4):408–15
Lakhal B, Laissue P, Braham R, Elghezal H, Saâd A, Fellous M, et al. A novel BMP15 variant, potentially affecting the signal peptide, in a familial case of premature ovarian failure. Clin Endocrinol (Oxf). 2009;71(5):752–3
Rossetti R, Di Pasquale E, Marozzi A, Bione S, Toniolo D, Grammatico P, et al. BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. Hum Mutat. 2009 May;30(5):804–10
Inagaki K, Shimasaki S. Impaired production of BMP-15 and GDF-9 mature proteins derived from proproteins WITH mutations in the proregion. Mol Cell Endocrinol. 2010 Oct 26;328(1–2):1–7
Korchynskyi O, ten Dijke P. Identification and Functional Characterization of Distinct Critically Important Bone Morphogenetic Protein-specific Response Elements in the Id1 Promoter. J Biol Chem. 2002 Feb 15;277(7):4883–91
Park ST, Kim J. Trends in Next-Generation Sequencing and a New Era for Whole Genome Sequencing. Int Neurourol J. 2016 Nov;20(Suppl 2):S76-83
Austin ED, Loyd JE. The Genetics of Pulmonary Arterial Hypertension. Circ Res. 2014 Jun 20;115(1):189–202
Erickson GF, Shimasaki S. The spatiotemporal expression pattern of the bone morphogenetic protein family in rat ovary cell types during the estrous cycle. Reprod Biol Endocrinol. 2003 Feb 5;1:9
Snowden T, Acharya S, Butz C, Berardini M, Fishel R. hMSH4-hMSH5 recognizes Holliday Junctions and forms a meiosis-specific sliding clamp that embraces homologous chromosomes. Mol Cell. 2004 Aug 13;15(3):437–51
Snowden T, Shim K-SK-S, Schmutte C, Acharya S, Fishel R. hMSH4-hMSH5 Adenosine Nucleotide Processing and Interactions with Homologous Recombination Machinery. J Biol Chem. 2008 Jan 4;283(1):145–54
Wang B, Li L, Zhu Y, Zhang W, Wang X, Chen B, et al. Sequence variants of KHDRBS1 as high penetrance susceptibility risks for primary ovarian insufficiency by mis-regulating mRNA alternative splicing. Hum Reprod. 2017 Oct;32(10):2138–46
Najib S, Martín-Romero C, González-Yanes C, Sánchez-Margalet V. Role of Sam68 as an adaptor protein in signal transduction. Cell Mol Life Sci. 2005 Jan;62(1):36–43
van Beek N, Klionsky DJ, Reggiori F. Genetic aberrations in macroautophagy genes leading to diseases. Biochim Biophys Acta-Mol Cell Res. 2018 May;1865(5):803–16
Nakatogawa H, Suzuki K, Kamada Y, Ohsumi Y. Dynamics and diversity in autophagy mechanisms: lessons from yeast. Nat Rev Mol Cell Biol. 2009 Jul 3;10(7):458–67
Tanida I, Ueno T, Kominami E. LC3 and Autophagy. Methods Mol Biol. 2008;445:77–88
Gawriluk TR, Hale AN, Flaws JA, Dillon CP, Green DR, Rucker EB. Autophagy is a cell survival program for female germ cells in the murine ovary. Reproduction. 2011 Jun 1;141(6):759–65
Song Z-H, Yu H-Y, Wang P, Mao G-K, Liu W-X, Li M-N, et al. Germ cell-specific Atg7 knockout results in primary ovarian insufficiency in female mice. Cell Death Dis. 2015 Jan 15;6(1):e1589–e1589
Haidar M, Timmerman V. Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies. Front Mol Neurosci. 2017 May 11;10
Johnson J, Espinoza T, McGaughey RW, Rawls A, Wilson-Rawls J. Notch pathway genes are expressed in mammalian ovarian follicles. Mech Dev. 2001 Dec;109(2):355–61
Iso T, Kedes L, Hamamori Y. HES and HERP families: Multiple effectors of the notch signaling pathway. J Cell Physiol. 2003 Mar;194(3):237–55.
Xu J, Gridley T. Notch2 is required in somatic cells for breakdown of ovarian germ-cell nests and formation of primordial follicles. BMC Biol. 2013 Feb 13;11(1):13
George RM, Hahn KL, Rawls A, Viger RS, Wilson-Rawls J. Notch signaling represses GATA4-induced expression of genes involved in steroid biosynthesis. Reproduction. 2015 Oct;150(4):383–94
Radtke F, Schweisguth F, Pear W. The Notch “gospel.” EMBO Rep. 2005 Dec;6(12):1120–5
Dixit H, Rao LK, Padmalatha V, Kanakavalli M, Deenadayal M, Gupta N, et al. Mutational screening of the coding region of growth differentiation factor 9 gene in Indian women with ovarian failure. Menopause. 2006;12(6):749–54
Ma L, Chen Y, Mei S, Liu C, Ma Xi, Li Y, et al. Single nucleotide polymorphisms in premature ovarian failure-associated genes in a Chinese Hui population. Mol Med Rep. 2015 Aug;12(2):2529–38.
Zhao H, Qin Y, Kovanci E, Simpson JL, Chen Z-J, Rajkovic A. Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure. Fertil Steril. 2007 Nov;88(5):1474–6
Hall JE. Endocrinology of the Menopause. Endocrinol Metab Clin North Am. 2015 Sep;44(3):485–96
Beau I, Touraine P, Meduri G, Gougeon A, Desroches A, Matuchansky C, et al. A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor. J Clin Invest. 1998 Oct 1;102(7):1352–9
Doherty E, Pakarinen P, Tiitinen A, Kiilavuori A, Huhtaniemi I, Forrest S, et al. A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. J Clin Endocrinol Metab. 2002 Mar;87(3):1151–5.
Shelling AN, Burton KA, Chand AL, van Ee CC, France JT, Farquhar CM, et al. Inhibin: a candidate gene for premature ovarian failure. Hum Reprod. 2000 Dec;15(12):2644–9
de Roux N, Young J, Misrahi M, Genet R, Chanson P, Schaison G, et al. A Family with Hypogonadotropic Hypogonadism and Mutations in the Gonadotropin-Releasing Hormone Receptor. N Engl J Med. 1997 Nov 27;337(22):1597–603
Foletta VC, Lim MA, Soosairajah J, Kelly AP, Stanley EG, Shannon M, et al. Direct signaling by the BMP type II receptor via the cytoskeletal regulator LIMK1. J Cell Biol. 2003 Sep 15;162(6):1089–98
Raetzman LT, Wheeler BS, Ross SA, Thomas PQ, Camper SA. Persistent Expression of Notch2 Delays Gonadotrope Differentiation. Mol Endocrinol. 2006 Nov;20(11):2898–908.
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario

مصطلحات موضوعية: Insuficiencia ovárica primaria, Enfermedades de los ovarios, Ensayos funcionales, Next generation sequencing, Secuenciación de siguiente generación, Mutaciones, Ginecología & otras especialidades médicas, Primary ovarian insufficiency, Mutations, Functional assays

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba62b346714f3afdbe2e42c5a92bc889

المؤلفون: Cifuentes Trujillo, Blanca Sofía, Reyes Cortes, Ingrid Carolina

المساهمون: Díaz Yamal, Ivonne Jeanette

المصدر: Kahn R, Buse J, Ferrannini E, Stern M, American Diabetes Association, European Association for the Study of Diabetes. The metabolic syndrome: time for a critical appraisal: joint statement from the American Diabetes Association and the European Association for the Study of Diabetes. Diabetes Care. 2005;28(9):2289-304.
Fauser BCJM, Tarlatzis BC, Rebar RW, Legro RS, Balen AH, Lobo R, et al. Consensus on women’s health aspects of polycystic ovary syndrome (PCOS): the Amsterdam ESHRE/ASRM-Sponsored 3rd PCOS Consensus Workshop Group. Fertil Steril. 2012;97(1):28-38.e25.
Ruan Y, Ma J, Xie X. Association of IRS-1 and IRS-2 genes polymorphisms with polycystic ovary syndrome: a meta-analysis. Endocr J. 2012;59(7):601-9.
Martínez Candela J, Franch Nadal J, Romero Ortiz J, Cánovas Domínguez C, Gallardo Martín A, Páez Pérez M. [Prevalence of metabolic syndrome in the adult population of Yecla (Murcia). Degree of agreement between three definitions of it]. Atencion Primaria Soc Esp Med Fam Comunitaria. 2006;38(2):72-9.
Lombo B, Villalobos C, Tique C, Satizabal C, Franco C. Prevalencia del síndrome metabólico entre los pacientes que asisten al servicio de la Clínica de Hipertensión de la Fundación Santa Fe de Bogotá. Rev Col Cardiol. 2006;472-8.
Melo AS, Macedo CSV, Romano LGM, Ferriani RA, Navarro PA de AS. [Women with polycystric ovary syndrome have a higher frequency of metabolic syndrome regardless of body mass index]. Rev Bras Ginecol E Obstetrícia Rev Fed Bras Soc Ginecol E Obstetrícia. 2012;34(1):4-10.

مصطلحات موضوعية: síndrome ovario poliquístico, policyst ovarian syndrome, QUISTE OVARICO, prevalencia, prevalence, SINDROME DE STEIN-LEVENTHAL, QUISTES, Colombia, síndrome metabólico, ENFERMEDADES DE LOS OVARIOS, metabolic syndrome

وصف الملف: pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2802::b9cdefe9b76d701102dd9e6f24e606c2
https://hdl.handle.net/10654/7693

المؤلفون: Ruiz Corella, Max A., Holst Schumacher, Ileana

المصدر: Revista del Colegio de Microbiólogos y Químicos Clínicos de Costa Rica. vol.16(1), pp. 19-24
Kérwá
Universidad de Costa Rica
instacron:UCR

مصطلحات موضوعية: Ovario poliquístico, 618.11 Enfermedades de los ovarios, Salud reproductiva, Mujeres

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3056::ba43eb81436bea6636710c201ec0e58c

المصدر: instname:Universidad del Rosario; reponame:Repositorio Institucional EdocUR; Persani L, Rossetti R, Cacciatore C. Genes involved in human premature ovarian failure. J Mol Endocrinol. 2010 Nov;45(5):257–79.; European Society for Human Reproduction and Embryology (ESHRE) Guideline Group on POI, Webber L, Davies M, Anderson R, Bartlett J, Braat D, et al. ESHRE Guideline: management of women with premature ovarian insufficiency. Hum Reprod. 2016 May;31(5):926–37; Bilgin EM, Kovanci E. Genetics of premature ovarian failure. Curr Opin Obstet Gynecol. 2015 Jun;27(3):167–74; Luborsky JL, Meyer P, Sowers MF, Gold EB, Santoro N. Premature menopause in a multi-ethnic population study of the menopause transition. Hum Reprod. 2003 Jan;18(1):199–206; Chang SH, Kim C-S, Lee K-S, Kim H, Yim SV, Lim YJ, et al. Premenopausal factors influencing premature ovarian failure and early menopause. Maturitas. 2007 Sep 20;58(1):19–30; Shelling A, Chapman C, Cree L. The genetics of premature ovarian failure: current perspectives. Int J Womens Health. 2015 Sep;799; Laissue P. Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing. Mol Cell Endocrinol. 2015 Aug 15;411:243–57; Laissue P. The molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencing. Mol Cell Endocrinol. 2018 Jan;460:170–80; Dube JL, Wang P, Elvin J, Lyons KM, Celeste AJ, Matzuk MM. The bone morphogenetic protein 15 gene is X-linked and expressed in oocytes. Mol Endocrinol. 1998 Dec;12(12):1809–17; Di Pasquale E, Beck-Peccoz P, Persani L. Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. Am J Hum Genet. 2004 Jul;75(1):106–11; Otsuka F, Shimasaki S. A Novel Function of Bone Morphogenetic Protein-15 in the Pituitary: Selective Synthesis and Secretion of FSH by Gonadotropes. Endocrinology. 2002 Dec;143(12):4938–41; Otsuka F, Shimasaki S. A negative feedback system between oocyte bone morphogenetic protein 15 and granulosa cell kit ligand: its role in regulating granulosa cell mitosis. Proc Natl Acad Sci U S A. 2002 Jun 11;99(12):8060–5; Otsuka F, Yamamoto S, Erickson GF, Shimasaki S. Bone Morphogenetic Protein-15 Inhibits Follicle-stimulating Hormone (FSH) Action by Suppressing FSH Receptor Expression. J Biol Chem. 2001 Apr 6;276(14):11387–92; Caixeta ES, Sutton-McDowall ML, Gilchrist RB, Thompson JG, Price CA, Machado MF, et al. Bone morphogenetic protein 15 and fibroblast growth factor 10 enhance cumulus expansion, glucose uptake, and expression of genes in the ovulatory cascade during in vitro maturation of bovine cumulus-oocyte complexes. Reproduction. 2013 Jul;146(1):27–35; Su Y-Q, Sugiura K, Wigglesworth K, O’Brien MJ, Affourtit JP, Pangas SA, et al. Oocyte regulation of metabolic cooperativity between mouse cumulus cells and oocytes: BMP15 and GDF9 control cholesterol biosynthesis in cumulus cells. Development. 2007 Nov 21;135(1):111–21; Persani L, Rossetti R, Di Pasquale E, Cacciatore C, Fabre S. The fundamental role of bone morphogenetic protein 15 in ovarian function and its involvement in female fertility disorders. Hum Reprod Update. 2014 Nov 1;20(6):869–83; Shimasaki S, Moore RK, Otsuka F, Erickson GF. The bone morphogenetic protein system in mammalian reproduction. Endocr Rev. 2004 Feb;25(1):72–101; Hashimoto O, Moore RK, Shimasaki S. Posttranslational processing of mouse and human BMP-15: Potential implication in the determination of ovulation quota. Proc Natl Acad Sci. 2005 Apr 12;102(15):5426–31; Peng J, Li Q, Wigglesworth K, Rangarajan A, Kattamuri C, Peterson RT, et al. Growth differentiation factor 9:bone morphogenetic protein 15 heterodimers are potent regulators of ovarian functions. Proc Natl Acad Sci. 2013 Feb 19;110(8):E776–85; Galloway SM, McNatty KP, Cambridge LM, Laitinen MP, Juengel JL, Jokiranta TS, et al. Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner. Nat Genet. 2000 Jul;25(3):279–83; Yan C, Wang P, DeMayo J, DeMayo FJ, Elvin JA, Carino C, et al. Synergistic roles of bone morphogenetic protein 15 and growth differentiation factor 9 in ovarian function. Mol Endocrinol. 2001 Jun;15(6):854–66; Wang B, Wen Q, Ni F, Zhou S, Wang J, Cao Y, et al. Analyses of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) mutation in Chinese women with premature ovarian failure. Clin Endocrinol (Oxf). 2010;72(1):135–6; Ledig S, Röpke A, Haeusler G, Hinney B, Wieacker P. BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure. Am J Obstet Gynecol. 2008;198(1):1–5; Tiotiu D, Alvaro Mercadal B, Imbert R, Verbist J, Demeestere I, De Leener A, et al. Variants of the BMP15 gene in a cohort of patients with premature ovarian failure. Hum Reprod. 2010;25(6):1581–7; Laissue P, Christin-Maitre S, Touraine P, Kuttenn F, Ritvos O, Aittomaki K, et al. Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure. Eur J Endocrinol. 2006;154(5):739–44; Di Pasquale E, Rossetti R, Marozzi A, Bodega B, Borgato S, Cavallo L, et al. Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure. J Clin Endocrinol Metab. 2006;91(5):1976–9; Dixit H, Rao LK, Padmalatha V V, Kanakavalli M, Deenadayal M, Gupta N, et al. Missense mutations in the BMP15 gene are associated with ovarian failure. Hum Genet. 2006 May;119(4):408–15; Lakhal B, Laissue P, Braham R, Elghezal H, Saâd A, Fellous M, et al. A novel BMP15 variant, potentially affecting the signal peptide, in a familial case of premature ovarian failure. Clin Endocrinol (Oxf). 2009;71(5):752–3; Rossetti R, Di Pasquale E, Marozzi A, Bione S, Toniolo D, Grammatico P, et al. BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. Hum Mutat. 2009 May;30(5):804–10; Inagaki K, Shimasaki S. Impaired production of BMP-15 and GDF-9 mature proteins derived from proproteins WITH mutations in the proregion. Mol Cell Endocrinol. 2010 Oct 26;328(1–2):1–7; Korchynskyi O, ten Dijke P. Identification and Functional Characterization of Distinct Critically Important Bone Morphogenetic Protein-specific Response Elements in the Id1 Promoter. J Biol Chem. 2002 Feb 15;277(7):4883–91; Park ST, Kim J. Trends in Next-Generation Sequencing and a New Era for Whole Genome Sequencing. Int Neurourol J. 2016 Nov;20(Suppl 2):S76-83; Austin ED, Loyd JE. The Genetics of Pulmonary Arterial Hypertension. Circ Res. 2014 Jun 20;115(1):189–202; Erickson GF, Shimasaki S. The spatiotemporal expression pattern of the bone morphogenetic protein family in rat ovary cell types during the estrous cycle. Reprod Biol Endocrinol. 2003 Feb 5;1:9; Snowden T, Acharya S, Butz C, Berardini M, Fishel R. hMSH4-hMSH5 recognizes Holliday Junctions and forms a meiosis-specific sliding clamp that embraces homologous chromosomes. Mol Cell. 2004 Aug 13;15(3):437–51; Snowden T, Shim K-SK-S, Schmutte C, Acharya S, Fishel R. hMSH4-hMSH5 Adenosine Nucleotide Processing and Interactions with Homologous Recombination Machinery. J Biol Chem. 2008 Jan 4;283(1):145–54; Wang B, Li L, Zhu Y, Zhang W, Wang X, Chen B, et al. Sequence variants of KHDRBS1 as high penetrance susceptibility risks for primary ovarian insufficiency by mis-regulating mRNA alternative splicing. Hum Reprod. 2017 Oct;32(10):2138–46; Najib S, Martín-Romero C, González-Yanes C, Sánchez-Margalet V. Role of Sam68 as an adaptor protein in signal transduction. Cell Mol Life Sci. 2005 Jan;62(1):36–43; van Beek N, Klionsky DJ, Reggiori F. Genetic aberrations in macroautophagy genes leading to diseases. Biochim Biophys Acta - Mol Cell Res. 2018 May;1865(5):803–16; Nakatogawa H, Suzuki K, Kamada Y, Ohsumi Y. Dynamics and diversity in autophagy mechanisms: lessons from yeast. Nat Rev Mol Cell Biol. 2009 Jul 3;10(7):458–67; Tanida I, Ueno T, Kominami E. LC3 and Autophagy. Methods Mol Biol. 2008;445:77–88; Gawriluk TR, Hale AN, Flaws JA, Dillon CP, Green DR, Rucker EB. Autophagy is a cell survival program for female germ cells in the murine ovary. Reproduction. 2011 Jun 1;141(6):759–65; Song Z-H, Yu H-Y, Wang P, Mao G-K, Liu W-X, Li M-N, et al. Germ cell-specific Atg7 knockout results in primary ovarian insufficiency in female mice. Cell Death Dis. 2015 Jan 15;6(1):e1589–e1589; Haidar M, Timmerman V. Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies. Front Mol Neurosci. 2017 May 11;10; Johnson J, Espinoza T, McGaughey RW, Rawls A, Wilson-Rawls J. Notch pathway genes are expressed in mammalian ovarian follicles. Mech Dev. 2001 Dec;109(2):355–61; Iso T, Kedes L, Hamamori Y. HES and HERP families: Multiple effectors of the notch signaling pathway. J Cell Physiol. 2003 Mar;194(3):237–55.; Xu J, Gridley T. Notch2 is required in somatic cells for breakdown of ovarian germ-cell nests and formation of primordial follicles. BMC Biol. 2013 Feb 13;11(1):13; George RM, Hahn KL, Rawls A, Viger RS, Wilson-Rawls J. Notch signaling represses GATA4-induced expression of genes involved in steroid biosynthesis. Reproduction. 2015 Oct;150(4):383–94; Radtke F, Schweisguth F, Pear W. The Notch “gospel.” EMBO Rep. 2005 Dec;6(12):1120–5; Dixit H, Rao LK, Padmalatha V, Kanakavalli M, Deenadayal M, Gupta N, et al. Mutational screening of the coding region of growth differentiation factor 9 gene in Indian women with ovarian failure. Menopause. 2006;12(6):749–54; Ma L, Chen Y, Mei S, Liu C, Ma Xi, Li Y, et al. Single nucleotide polymorphisms in premature ovarian failure-associated genes in a Chinese Hui population. Mol Med Rep. 2015 Aug;12(2):2529–38.; Zhao H, Qin Y, Kovanci E, Simpson JL, Chen Z-J, Rajkovic A. Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure. Fertil Steril. 2007 Nov;88(5):1474–6; Hall JE. Endocrinology of the Menopause. Endocrinol Metab Clin North Am. 2015 Sep;44(3):485–96; Beau I, Touraine P, Meduri G, Gougeon A, Desroches A, Matuchansky C, et al. A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor. J Clin Invest. 1998 Oct 1;102(7):1352–9; Doherty E, Pakarinen P, Tiitinen A, Kiilavuori A, Huhtaniemi I, Forrest S, et al. A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. 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مصطلحات الفهرس: Insuficiencia ovárica primaria, Mutaciones, Secuenciación de siguiente generación, Ensayos funcionales, 618.11, Enfermedades de los ovarios, Insuficiencia Ovárica Primaria, Primary ovarian insufficiency, Mutations, Functional assays, Next generation sequencing, info:eu-repo/semantics/doctoralThesis, info:eu-repo/semantics/acceptedVersion

URL: http://repository.urosario.edu.co/handle/10336/18243

المصدر: Revista de la Facultad de Medicina Veterinaria y de Zootecnia; Vol. 25 Núm. 123 (1962); 810 - 819; Revista de la Facultad de Medicina Veterinaria y de Zootecnia; Vol. 25 No. 123 (1962); 810 - 819; Revista de la Facultad de Medicina Veterinaria y de Zootecnia; v. 25 n. 123 (1962); 810 - 819; 2357-3813; 0120-2952

مصطلحات الفهرس: Enfermedades de los ovarios, Ovinos, Esterilidad, Ovulo, Quiste ovórico, Terapia hormonal., info:eu-repo/semantics/article, info:eu-repo/semantics/publishedVersion

URL: https://revistas.unal.edu.co/index.php/remevez/article/view/67062/61525
https://revistas.unal.edu.co/index.php/remevez/article/view/67062/61525
*ref*/Amoroso, E. S. — (1955). Vet. Rec. 67. 1.072. Asdell, S. A. DeAlba, I., & Roberts, S. I.— (1954). J. An Sci. 4. 277. Bearden, H. J.— (1954). "Fertilization and Embryonic Mortality Rates for Bulls with Histories of Either Low or Higb Fertility in Artificial Breeding", Thesis, Cornell Univ., Ithaca, N. Y.. Casida, L. E.— (1953). "Fertilization Failure- and Embryonic Death in Domestic Animais, Animais, from 'Pregnancy Wastage' " by E. T. Engle (1953); Charles Thomas Co., Spring field, III. Casida, & Champman, A. B.—(1951) I. Dairy Sci. 34. 1.200. Casida, McShan, W. H., & Meyer, R K.—(1944). J. An. Sci. 3. 273. Casida, & Wisnicky, W.—(1950). Ibia 9. 238. Eriksson, K.—(1938). Skand. Vet. 28. 409. Fincher, M. G.—(1946). "Methods of In creasing Fertility in Domestic Animais". Transact. of the Amer. Soc. for Study of Sterility, 1. Garm, O.—(1949). "A Study on Bovine Nymphomania", Acta Endocrinc- Iogica, Suppl. 3 (III). Gilmore, L. O.—(1953). "Dairy Cattle Breeding", F. B. Lippincott Co., NY. C. Hancock, J. L.—(1948). Vet. Rec. 60. 513. Hansel, W.—(1953). Iowa State Col. JSci. 28. I. Hansel, & Trimberger, G. W.—(1952). J. Dairy Sci. 35. 65. Haubrich, W. R.—(1955). Personal Communication. Herrick. J. B.—(1953). Vet. Med. 48. 489. Jubb, K., W. McEntee, K.—(1955). Cornell Vet. 45. 570. Kidder, H. E., Barrett, G. R., & Casida, L. E__(1952). J. Dairy Sel. 35. 436. Kidder, Blac. W. G.. Wiltbank, J. N., Ulberg, L. C.. & Casida, L. E.—(1954). Ibid. 37. 691. Lagerlof, N.—(1951). Fert. and Steril. 2. 230. Laing, J. A.—(1955). "Fertility and Iniertility in Domestic Animais", Williams, & Wilkins Co., Baltimore, Md. Marion, G. B„ & Smith, V. R.—(1951). I. Dairy Sci. 34. 496. McDonald, L. E., McNutt, Si H., & Nichols. R. E. —(1953a). Amer. J. Vet. Res. 14. 539. McDonald. Nichols, R. E., & McNutt, S. H.—(1953b). Ibid 14. 385. McEntee. K.—(1956). Personal Communication. McEntee," & Zepp, C. P., Jr.—(1953). Canine and Bovine Ovarian Tumors', Proc. First World Congress on Fert. and Ste

المصدر: Revista de la Facultad de Medicina Veterinaria y de Zootecnia; Vol. 25 Núm. 123 (1962); 810 - 819; Revista de la Facultad de Medicina Veterinaria y de Zootecnia; Vol. 25 No. 123 (1962); 810 - 819; Revista de la Facultad de Medicina Veterinaria y de Zootecnia; v. 25 n. 123 (1962); 810 - 819; 2357-3813; 0120-2952

مصطلحات الفهرس: Enfermedades de los ovarios, Ovinos, Esterilidad, Ovulo, Quiste ovórico, Terapia hormonal., info:eu-repo/semantics/article, info:eu-repo/semantics/publishedVersion

URL: https://revistas.unal.edu.co/index.php/remevez/article/view/67062/61525
https://revistas.unal.edu.co/index.php/remevez/article/view/67062/61525
*ref*/Amoroso, E. S. — (1955). Vet. Rec. 67. 1.072. Asdell, S. A. DeAlba, I., & Roberts, S. I.— (1954). J. An Sci. 4. 277. Bearden, H. J.— (1954). "Fertilization and Embryonic Mortality Rates for Bulls with Histories of Either Low or Higb Fertility in Artificial Breeding", Thesis, Cornell Univ., Ithaca, N. Y.. Casida, L. E.— (1953). "Fertilization Failure- and Embryonic Death in Domestic Animais, Animais, from 'Pregnancy Wastage' " by E. T. Engle (1953); Charles Thomas Co., Spring field, III. Casida, & Champman, A. B.—(1951) I. Dairy Sci. 34. 1.200. Casida, McShan, W. H., & Meyer, R K.—(1944). J. An. Sci. 3. 273. Casida, & Wisnicky, W.—(1950). Ibia 9. 238. Eriksson, K.—(1938). Skand. Vet. 28. 409. Fincher, M. G.—(1946). "Methods of In creasing Fertility in Domestic Animais". Transact. of the Amer. Soc. for Study of Sterility, 1. Garm, O.—(1949). "A Study on Bovine Nymphomania", Acta Endocrinc- Iogica, Suppl. 3 (III). Gilmore, L. O.—(1953). "Dairy Cattle Breeding", F. B. Lippincott Co., NY. C. Hancock, J. L.—(1948). Vet. Rec. 60. 513. Hansel, W.—(1953). Iowa State Col. JSci. 28. I. Hansel, & Trimberger, G. W.—(1952). J. Dairy Sci. 35. 65. Haubrich, W. R.—(1955). Personal Communication. Herrick. J. B.—(1953). Vet. Med. 48. 489. Jubb, K., W. McEntee, K.—(1955). Cornell Vet. 45. 570. Kidder, H. E., Barrett, G. R., & Casida, L. E__(1952). J. Dairy Sel. 35. 436. Kidder, Blac. W. G.. Wiltbank, J. N., Ulberg, L. C.. & Casida, L. E.—(1954). Ibid. 37. 691. Lagerlof, N.—(1951). Fert. and Steril. 2. 230. Laing, J. A.—(1955). "Fertility and Iniertility in Domestic Animais", Williams, & Wilkins Co., Baltimore, Md. Marion, G. B„ & Smith, V. R.—(1951). I. Dairy Sci. 34. 496. McDonald, L. E., McNutt, Si H., & Nichols. R. E. —(1953a). Amer. J. Vet. Res. 14. 539. McDonald. Nichols, R. E., & McNutt, S. H.—(1953b). Ibid 14. 385. McEntee. K.—(1956). Personal Communication. McEntee," & Zepp, C. P., Jr.—(1953). Canine and Bovine Ovarian Tumors', Proc. First World Congress on Fert. and Ste