Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

[1]  Lin Lin,et al.  A genomic atlas of human adrenal and gonad development , 2017, Wellcome open research.

[2]  Dave T. Gerrard,et al.  An integrative transcriptomic atlas of organogenesis in human embryos , 2016, eLife.

[3]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[4]  J. Vandesompele,et al.  Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice , 2015, Human mutation.

[5]  P. Rubtsov,et al.  DAX1, an unusual member of the nuclear receptor superfamily with diverse functions , 2015, Molecular Biology.

[6]  S. Nelson,et al.  Exome sequencing for the diagnosis of 46,XY disorders of sex development. , 2015, The Journal of clinical endocrinology and metabolism.

[7]  Harry Ostrer,et al.  Disorders of sex development (DSDs): an update. , 2014, The Journal of clinical endocrinology and metabolism.

[8]  I. Casteels,et al.  Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy , 2014, Genetics in Medicine.

[9]  H. Ostrer,et al.  Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling. , 2014, Human molecular genetics.

[10]  M. Asadi,et al.  Estrogen receptor mutation in a girl with primary amenorrhea , 2013, Clinical genetics.

[11]  Makoto Ono,et al.  Disorders of sex development: new genes, new concepts , 2013, Nature Reviews Endocrinology.

[12]  J. Macdougall,et al.  Androgen insensitivity syndrome , 2012, The Lancet.

[13]  B. Franke,et al.  Aetiology of hypospadias: a systematic review of genes and environment. , 2012, Human reproduction update.

[14]  M. Griswold,et al.  DMRT1 prevents female reprogramming in the postnatal mammalian testis , 2011, Nature.

[15]  L. Looijenga,et al.  Gonadal Development and Tumor Formation at the Crossroads of Male and Female Sex Determination , 2011, Sexual Development.

[16]  H. Ostrer,et al.  Minor Abnormalities of Testis Development in Mice Lacking the Gene Encoding the MAPK Signalling Component, MAP3K1 , 2011, PloS one.

[17]  John C. Achermann,et al.  Steroidogenic factor-1 (SF-1, NR5A1) and human disease , 2011, Molecular and Cellular Endocrinology.

[18]  H. Ostrer,et al.  Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. , 2010, American journal of human genetics.

[19]  C. Ottmann,et al.  Synthesis and Crystal Structure of a Phosphorylated Estrogen Receptor Ligand Binding Domain , 2010, Chembiochem : a European journal of chemical biology.

[20]  K. McElreavey,et al.  New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD) , 2010, Sexual Development.

[21]  L. Kiemeney,et al.  Genetics of hypospadias: are single-nucleotide polymorphisms in SRD5A2, ESR1, ESR2, and ATF3 really associated with the malformation? , 2010, The Journal of clinical endocrinology and metabolism.

[22]  P. Fuller,et al.  The importance of ERbeta signalling in the ovary. , 2010, The Journal of endocrinology.

[23]  R. Lovell-Badge,et al.  Somatic Sex Reprogramming of Adult Ovaries to Testes by FOXL2 Ablation , 2009, Cell.

[24]  H. Ostrer,et al.  Loss of Mitogen-Activated Protein Kinase Kinase Kinase 4 (MAP3K4) Reveals a Requirement for MAPK Signalling in Mouse Sex Determination , 2009, PLoS biology.

[25]  H. Kakizaki,et al.  Genetic polymorphisms of ESR1 and ESR2 that may influence estrogen activity and the risk of hypospadias. , 2008, Human reproduction.

[26]  I. Kockum,et al.  Risk factors for hypospadias in the estrogen receptor 2 gene. , 2007, The Journal of clinical endocrinology and metabolism.

[27]  J. Hellemans,et al.  Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. , 2007, American journal of human genetics.

[28]  P. Ascenzi,et al.  Estrogen signaling multiple pathways to impact gene transcription. , 2006, Current genomics.

[29]  S. Ahmed,et al.  Consensus Statement on Management of Intersex Disorders , 2006, Pediatrics.

[30]  Conrad C. Huang,et al.  UCSF Chimera—A visualization system for exploratory research and analysis , 2004, J. Comput. Chem..

[31]  P. Driggers,et al.  Estrogen action and cytoplasmic signaling pathways. Part II: the role of growth factors and phosphorylation in estrogen signaling , 2002, Trends in Endocrinology & Metabolism.

[32]  P. Driggers,et al.  Estrogen action and cytoplasmic signaling cascades. Part I: membrane-associated signaling complexes , 2002, Trends in Endocrinology & Metabolism.

[33]  L. Serrano,et al.  Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations. , 2002, Journal of molecular biology.

[34]  J. Gustafsson,et al.  Generation and reproductive phenotypes of mice lacking estrogen receptor beta. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[35]  R. Lovell-Badge,et al.  Dax1 antagonizes Sry action in mammalian sex determination , 1998, Nature.

[36]  John W. R. Schwabe,et al.  The crystal structure of the estrogen receptor DNA-binding domain bound to DNA: How receptors discriminate between their response elements , 1993, Cell.

[37]  Bart De Moor,et al.  A guide to web tools to prioritize candidate genes , 2011, Briefings Bioinform..

[38]  Keehyoung Joo,et al.  Improving physical realism, stereochemistry, and side‐chain accuracy in homology modeling: Four approaches that performed well in CASP8 , 2009, Proteins.

[39]  I. Kockum,et al.  Polymorphisms of estrogen receptor β gene are associated with hypospadias , 2006 .

[40]  J. Gustafsson,et al.  Role of estrogen receptor beta in estrogen action. , 2001, Annual review of physiology.