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Page 1
Primary adrenal insufficiency: New genetic causes and their long-term consequences.
Buonocore F, Achermann JC. Buonocore F, et al. Clin Endocrinol (Oxf). 2020 Jan;92(1):11-20. doi: 10.1111/cen.14109. Epub 2019 Oct 30. Clin Endocrinol (Oxf). 2020. PMID: 31610036 Free PMC article. Review.
We discuss (a) the role of the nuclear receptors DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human adrenal and reproductive dysfunction; (b) multisystem growth restriction syndromes due to gain-of-function in the growth repressors CDKN1C (IMAGE syndrome …
We discuss (a) the role of the nuclear receptors DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human adrenal and reproductive dy …
IMAGe syndrome: Case report with a previously unreported feature and review of published literature.
Balasubramanian M, Sprigg A, Johnson DS. Balasubramanian M, et al. Am J Med Genet A. 2010 Dec;152A(12):3138-42. doi: 10.1002/ajmg.a.33716. Am J Med Genet A. 2010. PMID: 21108398 Review.
IMAGe syndrome is a rare condition, first reported by Vilain et al., in 1999, characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. ...Other reported features in this condition include, hyperca …
IMAGe syndrome is a rare condition, first reported by Vilain et al., in 1999, characterized by intrauterine growth restriction …
CDKN1C mutations: two sides of the same coin.
Eggermann T, Binder G, Brioude F, Maher ER, Lapunzina P, Cubellis MV, Bergadá I, Prawitt D, Begemann M. Eggermann T, et al. Trends Mol Med. 2014 Nov;20(11):614-22. doi: 10.1016/j.molmed.2014.09.001. Epub 2014 Sep 25. Trends Mol Med. 2014. PMID: 25262539 Review.
With recent reports of gain-of-function mutations of the PCNA domain of CDKN1C in growth-retarded patients with IMAGe syndrome or Silver-Russell syndrome (SRS), its key role for growth has been confirmed. ...
With recent reports of gain-of-function mutations of the PCNA domain of CDKN1C in growth-retarded patients with IMAGe syndrome …
Analysis of CDKN1C in fetal growth restriction and pregnancy loss.
Suntharalingham JP, Ishida M, Buonocore F, Del Valle I, Solanky N, Demetriou C, Regan L, Moore GE, Achermann JC. Suntharalingham JP, et al. F1000Res. 2019 Jan 23;8:90. doi: 10.12688/f1000research.15016.2. eCollection 2019. F1000Res. 2019. PMID: 31497289 Free PMC article. Review.
Methods: Analysis of published literature was undertaken to review the localisation of variants in CDKN1C associated with IMAGe syndrome or fetal growth restriction. CDKN1C expression in different tissues was analysed in available RNA-Seq data (Human Protein Atlas). …
Methods: Analysis of published literature was undertaken to review the localisation of variants in CDKN1C associated with IMAGe sy …
IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of-Function CDKN1C Mutations.
Cabrera-Salcedo C, Kumar P, Hwa V, Dauber A. Cabrera-Salcedo C, et al. Pediatr Endocrinol Rev. 2017 Mar;14(3):289-297. doi: 10.17458/per.vol14.2017.SKHD.imageandrelatedundergrowth. Pediatr Endocrinol Rev. 2017. PMID: 28508599 Review.
Recently, gain-of-function mutations in the PCNA domain of CDKN1C have been reported as the genetic basis of various growth-retarded syndromes including IMAGe syndrome, Russell Silver syndrome as well as a novel undergrowth syndrome that additionally exhibited early …
Recently, gain-of-function mutations in the PCNA domain of CDKN1C have been reported as the genetic basis of various growth-retarded syndrom …
MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction.
Flück CE. Flück CE. Eur J Endocrinol. 2017 Sep;177(3):R99-R111. doi: 10.1530/EJE-17-0128. Epub 2017 Apr 27. Eur J Endocrinol. 2017. PMID: 28450305 Review.
In addition, whole exome sequencing approach also solved the genetics of some syndromic forms of PAI including IMAGe syndrome (CDKN1C), Irish traveler syndrome (MCM4), MIRAGE syndrome (SAMD9); and most recently a syndrome combining FGD with steroid-resistant nephrot …
In addition, whole exome sequencing approach also solved the genetics of some syndromic forms of PAI including IMAGe syndrome …
Novel insight into etiology, diagnosis and management of primary adrenal insufficiency.
Malikova J, Flück CE. Malikova J, et al. Horm Res Paediatr. 2014;82(3):145-57. doi: 10.1159/000363107. Epub 2014 Aug 1. Horm Res Paediatr. 2014. PMID: 25096886 Free article. Review.
Other forms of PAI include metabolic disorders, autoimmune disorders and adrenal dysgenesis, e.g. the IMAGe syndrome, for which the underlying genetic defect has been recently identified. ...
Other forms of PAI include metabolic disorders, autoimmune disorders and adrenal dysgenesis, e.g. the IMAGe syndrome, for whic …
IMAGe association: report of two cases in siblings with adrenal hypoplasia and review of the literature.
Phillips K, Arroyo MR, Duckworth LV. Phillips K, et al. Pediatr Dev Pathol. 2014 May-Jun;17(3):204-8. doi: 10.2350/14-01-1421-OA.1. Epub 2014 Mar 11. Pediatr Dev Pathol. 2014. PMID: 24617583 Review.
We report the postmortem findings of two siblings with gross and microscopic features consistent with IMAGe association (Intrauterine growth retardation, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Gen …
We report the postmortem findings of two siblings with gross and microscopic features consistent with IMAGe association (Intrauterine …
Growth abnormalities associated with adrenal disorders and their management.
Savage MO, Lebrethon MC, Blair JC, Ho JT, Johnston LB, Lienhardt A, Clark AJ, Chaussain JL. Savage MO, et al. Horm Res. 2001;56 Suppl 1:19-23. doi: 10.1159/000048129. Horm Res. 2001. PMID: 11786680 Review.
Tall stature is a feature in some patients with adrenocorticotropic hormone resistance syndromes and short stature is recognized in the IMAGe (intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita …
Tall stature is a feature in some patients with adrenocorticotropic hormone resistance syndromes and short stature is recognized in the IMAG …
12 results