Familial adrenal hypoplasia syndromes

[1]  N. Pachter,et al.  NNT Pseudoexon Activation as a Novel Mechanism for Disease in Two Siblings With Familial Glucocorticoid Deficiency , 2014, The Journal of clinical endocrinology and metabolism.

[2]  D. Milani,et al.  Beckwith – wiedemann and iMAGe syndromes : two very different diseases caused by mutations on the same gene , 2014 .

[3]  Michael H. Guo,et al.  A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes. , 2014, The Journal of clinical endocrinology and metabolism.

[4]  L. Metherell,et al.  Oxidative stress and adrenocortical insufficiency , 2014, The Journal of endocrinology.

[5]  L. Metherell,et al.  Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD) , 2014, The Journal of clinical endocrinology and metabolism.

[6]  E. Vilain,et al.  X-Linked Adrenal Hypoplasia Congenita , 2013 .

[7]  M. Nakanishi,et al.  Increased Protein Stability of CDKN1C Causes a Gain-of-Function Phenotype in Patients with IMAGe Syndrome , 2013, PloS one.

[8]  S. Puchol,et al.  Involvement of melanocortin receptor accessory proteins (MRAPs) in the function of melanocortin receptors. , 2013, General and comparative endocrinology.

[9]  T. Ogata,et al.  A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency. , 2013, Endocrine journal.

[10]  Claire Hughes,et al.  Familial glucocorticoid deficiency: New genes and mechanisms , 2013, Molecular and Cellular Endocrinology.

[11]  T. Novoselova,et al.  Melanocortin receptor accessory proteins in adrenal gland physiology and beyond. , 2013, The Journal of endocrinology.

[12]  F. Wagner,et al.  Mutations in Nicotinamide Nucleotide Transhydrogenase (NNT) cause familial glucocorticoid deficiency , 2012, Nature Genetics.

[13]  S. Nelson,et al.  Mutations in the PCNA-binding domain of CDKN1C cause IMAGE Syndrome , 2012, Nature Genetics.

[14]  S. Tobet,et al.  Steroidogenic Factor 1 and the Central Nervous System , 2012, Journal of neuroendocrinology.

[15]  J. Jameson,et al.  Hypogonadotropic hypogonadism in subjects with DAX1 mutations , 2011, Molecular and Cellular Endocrinology.

[16]  E. McCabe,et al.  Moving toward personalized cell-based interventions for adrenal cortical disorders: part 1--Adrenal development and function, and roles of transcription factors and signaling proteins. , 2011, Molecular genetics and metabolism.

[17]  B. Dick,et al.  Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia , 2011, PloS one.

[18]  C. Gieger,et al.  Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy. , 2011, European heart journal.

[19]  C. Flück,et al.  Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity. , 2010, The Journal of clinical endocrinology and metabolism.

[20]  N. Shah,et al.  Triple-A syndrome. , 2010, Advances in experimental medicine and biology.

[21]  A. Belgorosky,et al.  Three New SF-1 (NR5A1) Gene Mutations in Two Unrelated Families with Multiple Affected Members: Within-Family Variability in 46,XY Subjects and Low Ovarian Reserve in Fertile 46,XX Subjects , 2010, Hormone Research in Paediatrics.

[22]  L. Metherell,et al.  Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2 , 2010, Clinical endocrinology.

[23]  A. Eliakim,et al.  Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations , 2010, Clinical endocrinology.

[24]  M. Polak,et al.  Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration , 2010, Reproductive biology and endocrinology : RB&E.

[25]  T. Webb,et al.  Minireview: the melanocortin 2 receptor accessory proteins. , 2010, Molecular endocrinology.

[26]  H. Storr,et al.  Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism. , 2009, Molecular endocrinology.

[27]  D. Berney,et al.  Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. , 2009, The Journal of clinical endocrinology and metabolism.

[28]  L. Metherell,et al.  The genetics of familial glucocorticoid deficiency. , 2009, Best practice & research. Clinical endocrinology & metabolism.

[29]  K. McElreavey,et al.  Mutations in NR5A1 associated with ovarian insufficiency. , 2009, The New England journal of medicine.

[30]  T. Webb,et al.  The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface. , 2008, The Journal of clinical endocrinology and metabolism.

[31]  M. de Castro,et al.  Heterogeneity in the molecular basis of ACTH resistance syndrome. , 2008, European journal of endocrinology.

[32]  A. Grüters,et al.  Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency , 2008, Human mutation.

[33]  J. Achermann,et al.  Disorders of adrenal development. , 2008, Endocrine development.

[34]  L. Metherell,et al.  Familial Glucocorticoid Deficiency: Advances in the Molecular Understanding of ACTH Action , 2007, Hormone Research in Paediatrics.

[35]  Y. Morel,et al.  Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome. , 2007, The Journal of clinical endocrinology and metabolism.

[36]  M. Matsuo,et al.  A novel mutation in the accessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency. , 2007, European journal of endocrinology.

[37]  M. Dattani,et al.  Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. , 2007, The Journal of clinical endocrinology and metabolism.

[38]  P. Ekert,et al.  Two sisters with IMAGe syndrome: Cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review , 2006, American journal of medical genetics. Part A.

[39]  J. Jameson,et al.  Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience. , 2006, The Journal of clinical endocrinology and metabolism.

[40]  C. Tsigos,et al.  Compound Heterozygosity of a Frameshift Mutation in the Coding Region and a Single Base Substitution in the Promoter of the ACTH Receptor Gene in a Family with Isolated Glucocorticoid Deficiency , 2006, Journal of pediatric endocrinology & metabolism : JPEM.

[41]  C. Stratakis,et al.  Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000–2005 , 2005, Clinical genetics.

[42]  J. Achermann.  The role of SF1/DAX1 in adrenal and reproductive function. , 2005, Annales d'endocrinologie.

[43]  C. Tsigos,et al.  Hypothalamic-Pituitary-Adrenal Axis , 2005 .

[44]  F. Rüschendorf,et al.  Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2 , 2005, Nature Genetics.

[45]  T. Ogata,et al.  Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1. , 2004, The Journal of clinical endocrinology and metabolism.

[46]  Y. Morel,et al.  Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency. , 2004, The Journal of clinical endocrinology and metabolism.

[47]  W. Rainey,et al.  A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency. , 2004, The Journal of clinical endocrinology and metabolism.

[48]  K. Knobeloch,et al.  The Triple A Syndrome Is Due to Mutations in ALADIN, a Novel Member of the Nuclear Pore Complex , 2004, Endocrine research.

[49]  F. Nöthiger.  Familiärer Morbus Addison , 2004, Zeitschrift für Kinderheilkunde.

[50]  A. Huebner,et al.  Triple A syndrome: genotype–phenotype assessment , 2003, Clinical genetics.

[51]  M. Prevett,et al.  Allgrove or 4 “A” syndrome: an autosomal recessive syndrome causing multisystem neurological disease , 2003, Journal of neurology, neurosurgery, and psychiatry.

[52]  Nicholas W Wood,et al.  Clinical and genetic characterisation of families with triple a (Allgrove) syndrome , 2002 .

[53]  J. Jameson,et al.  The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans. , 2002, Molecular genetics and metabolism.

[54]  C. Tsigos,et al.  Functional relationships between three novel homozygous mutations in the ACTH receptor gene and familial glucocorticoid deficiency , 2002, Journal of Molecular Medicine.

[55]  J. Jameson,et al.  Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. , 2002, The Journal of clinical endocrinology and metabolism.

[56]  N. Hanley,et al.  Steroidogenic factor 1: an essential mediator of endocrine development. , 2002, Recent progress in hormone research.

[57]  J. Jameson,et al.  Phenotypic spectrum of mutations in DAX-1 and SF-1 , 2001, Molecular and Cellular Endocrinology.

[58]  J. Phelan,et al.  Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita , 2001, Human mutation.

[59]  C. Stratakis,et al.  Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin. , 2001, The Journal of clinical endocrinology and metabolism.

[60]  A. Tabarin.  Congenital adrenal hypoplasia and DAX-1 gene mutations. , 2001, Annales d'endocrinologie.

[61]  S. Hennig,et al.  Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. , 2001, Human molecular genetics.

[62]  E. Schoenle,et al.  Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency. , 2000, American journal of human genetics.

[63]  C. Tsigos,et al.  Mutations of the ACTH receptor gene in a new family with isolated glucocorticoid deficiency. , 2000, Molecular genetics and metabolism.

[64]  J. Jameson,et al.  A Naturally Occurring Steroidogenic Factor-1 Mutation Exhibits Differential Binding and Activation of Target Genes* , 2000, The Journal of Biological Chemistry.

[65]  P. Clayton,et al.  Tall stature in familial glucocorticoid deficiency , 2000, Clinical endocrinology.

[66]  W. Crowley,et al.  X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. , 1999, The Journal of clinical endocrinology and metabolism.

[67]  M. Kay,et al.  IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. , 1999, The Journal of clinical endocrinology and metabolism.

[68]  P. Hindmarsh,et al.  A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans , 1999, Nature Genetics.

[69]  J. Baron,et al.  Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene. , 1999, The New England journal of medicine.

[70]  A. Clark,et al.  ACTH resistance syndromes. , 1999, Journal of pediatric endocrinology & metabolism : JPEM.

[71]  W. Sippell,et al.  Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene. , 1998, The Journal of clinical endocrinology and metabolism.

[72]  G. Chrousos,et al.  Steroidogenic factor 1 messenger ribonucleic acid expression in steroidogenic and nonsteroidogenic human tissues: Northern blot and in situ hybridization studies. , 1997, The Journal of clinical endocrinology and metabolism.

[73]  B. Schimmer,et al.  Steroidogenic factor 1: a key determinant of endocrine development and function. , 1997, Endocrine reviews.

[74]  H J Dean,et al.  Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. , 1996, Human molecular genetics.

[75]  G. Chrousos,et al.  Cloning and sequence analysis of the human gene encoding steroidogenic factor 1. , 1996, Journal of molecular endocrinology.

[76]  C. Tsigos,et al.  A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome. , 1995, The Journal of clinical endocrinology and metabolism.

[77]  A. Monaco,et al.  Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism , 1994, Nature.

[78]  A. Monaco,et al.  An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita , 1994, Nature.

[79]  C. Tsigos,et al.  Physiology of the hypothalamic-pituitary-adrenal axis in health and dysregulation in psychiatric and autoimmune disorders. , 1994, Endocrinology and metabolism clinics of North America.

[80]  A. Clark,et al.  Molecular insights into inherited ACTH resistance syndromes , 1994, Trends in Endocrinology & Metabolism.

[81]  C. Tsigos,et al.  Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. , 1993, The Journal of clinical investigation.

[82]  A. Clark,et al.  Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor , 1993, The Lancet.

[83]  K. Parker,et al.  Steroidogenic factor I, a key regulator of steroidogenic enzyme expression, is the mouse homolog of fushi tarazu-factor I. , 1992, Molecular endocrinology.

[84]  G. Clayden,et al.  FAMILIAL GLUCOCORTICOID DEFICIENCY WITH ACHALASIA OF THE CARDIA AND DEFICIENT TEAR PRODUCTION , 1978, The Lancet.

[85]  C. Goetz,et al.  Letter: Myoclonus, methysergide, and serotonin. , 1974, Lancet.

[86]  T. Shepard,et al.  Familial Addison's disease; case reports of two sisters with corticoid deficiency unassociated with hypoaldosteronism. , 1959, A.M.A. journal of diseases of children.

[87]  H. Šikl.  Addison's disease due to congenital hypoplasia of the adrenals in an infant aged 33 days , 1948, The Journal of pathology and bacteriology.