PMC Links for Books (Select 1491778) - PMC

Select item 56069461.

Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center

Nikolaos Kyriakakis, Tolulope Shonibare, Julie Kyaw-Tun, Julie Lynch, Carlos F. Lagos, John C. Achermann, Robert D. Murray

Pituitary. 2017; 20(5): 585–593. Published online 2017 Jul 24. doi: 10.1007/s11102-017-0822-x

PMCID:: PMC5606946

Abstract Article PDF–1.0M

Select item 53307442.

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

Rathi Prasad, Irene Hadjidemetriou, Avinaash Maharaj, Eirini Meimaridou, Federica Buonocore, Moin Saleem, Jenny Hurcombe, Agnieszka Bierzynska, Eliana Barbagelata, Ignacio Bergadá, Hamilton Cassinelli, Urmi Das, GOSgene, Ruth Krone, Bulent Hacihamdioglu, Erkan Sari, Ediz Yesilkaya, Helen L. Storr, Maria Clemente, Monica Fernandez-Cancio, Nuria Camats, Nanik Ram, John C. Achermann, Paul P. Van Veldhoven, Leonardo Guasti, Debora Braslavsky, Tulay Guran, Louise A. Metherell

J Clin Invest. 2017 Mar 1; 127(3): 942–953. Published online 2017 Feb 6. doi: 10.1172/JCI90171

PMCID:: PMC5330744

Abstract Article PDF–3.5M

Select item 51597453.

DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

Jenifer P. Suntharalingham, Federica Buonocore, Andrew J. Duncan, John C. Achermann

Best Pract Res Clin Endocrinol Metab. Author manuscript; available in PMC 2016 Dec 16.

Published in final edited form as: Best Pract Res Clin Endocrinol Metab. 2015 Aug; 29(4): 607–619. Published online 2015 Jul 14. doi: 10.1016/j.beem.2015.07.004

PMCID:: PMC5159745

Abstract Article PDF–628K

Select item 49716794.

Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience

Carla Bizzarri, Nicole Olivini, Stefania Pedicelli, Romana Marini, Germana Giannone, Paola Cambiaso, Marco Cappa

Ital J Pediatr. 2016; 42: 73. Published online 2016 Aug 2. doi: 10.1186/s13052-016-0282-3

PMCID:: PMC4971679

Abstract Article PDF–591K

Select item 48801165.

Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline

Stefan R. Bornstein, Bruno Allolio, Wiebke Arlt, Andreas Barthel, Andrew Don-Wauchope, Gary D. Hammer, Eystein S. Husebye, Deborah P. Merke, M. Hassan Murad, Constantine A. Stratakis, David J. Torpy

J Clin Endocrinol Metab. 2016 Feb; 101(2): 364–389. Published online 2015 Dec 13. doi: 10.1210/jc.2015-1710

PMCID:: PMC4880116

Abstract Article

Select item 47319256.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 47018527.

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

Tulay Guran, Federica Buonocore, Nurcin Saka, Mehmet Nuri Ozbek, Zehra Aycan, Abdullah Bereket, Firdevs Bas, Sukran Darcan, Aysun Bideci, Ayla Guven, Korcan Demir, Aysehan Akinci, Muammer Buyukinan, Banu Kucukemre Aydin, Serap Turan, Sebahat Yilmaz Agladioglu, Zeynep Atay, Zehra Yavas Abali, Omer Tarim, Gonul Catli, Bilgin Yuksel, Teoman Akcay, Metin Yildiz, Samim Ozen, Esra Doger, Huseyin Demirbilek, Ahmet Ucar, Emregul Isik, Bayram Ozhan, Semih Bolu, Ilker Tolga Ozgen, Jenifer P. Suntharalingham, John C. Achermann

J Clin Endocrinol Metab. 2016 Jan; 101(1): 284–292. Published online 2015 Nov 2. doi: 10.1210/jc.2015-3250

PMCID:: PMC4701852

Abstract Article

Select item 33868968.

Mutations in Nicotinamide Nucleotide Transhydrogenase (NNT) cause familial glucocorticoid deficiency

Eirini Meimaridou, Julia Kowalczyk, Leonardo Guasti, Claire R. Hughes, Florian Wagner, Peter Frommolt, Peter Nürnberg, Nicholas P. Mann, Ritwik Banerjee, H. Nurcin Saka, J. Paul Chapple, Peter J. King, Adrian J.L. Clark, Louise A. Metherell

Nat Genet. Author manuscript; available in PMC 2013 Jan 1.

Published in final edited form as: Nat Genet. 2012 May 27; 44(7): 740–742. Published online 2012 May 27. doi: 10.1038/ng.2299

PMCID:: PMC3386896

Abstract Article PDF–918K

Select item 32992599.

Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis

Michela Barbaro, Jackie Cook, Kristina Lagerstedt-Robinson, Anna Wedell

Int J Endocrinol. 2012; 2012: 504904. Published online 2012 Feb 28. doi: 10.1155/2012/504904

PMCID:: PMC3299259

Abstract Article PDF–596K

Select item 315978110.

Evidence of Adrenal Failure in Aging Dax1-Deficient Mice

Joshua O. Scheys, Joanne H. Heaton, Gary D. Hammer

Endocrinology. 2011 Sep; 152(9): 3430–3439. Published online 2011 Jul 5. doi: 10.1210/en.2010-0986

PMCID:: PMC3159781

Abstract Article

Select item 303779411.

Birth after TESE–ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation

C. Frapsauce, C. Ravel, M. Legendre, M. Sibony, J. Mandelbaum, B. Donadille, J.C. Achermann, J.-P. Siffroi, S. Christin-Maitre

Hum Reprod. 2011 Mar; 26(3): 724–728. Published online 2011 Jan 11. doi: 10.1093/humrep/deq372

PMCID:: PMC3037794

Abstract Article PDF–216K

Select item 281455212.

CBP/p300-Interacting Transactivator, with Glu/Asp-Rich C-Terminal Domain, 2, and Pre-B-Cell Leukemia Transcription Factor 1 in Human Adrenal Development and Disease

Bruno Ferraz-de-Souza, Franziska Martin, Delphine Mallet, Rebecca E. Hudson-Davies, Patricia Cogram, Lin Lin, Dianne Gerrelli, Felix Beuschlein, Yves Morel, Angela Huebner, John C. Achermann

J Clin Endocrinol Metab. 2009 Feb; 94(2): 678–683. Published online 2008 Nov 4. doi: 10.1210/jc.2008-1064

PMCID:: PMC2814552

Abstract Article

Select item 265562013.

Dax-1 and Steroid Receptor RNA Activator (SRA) Function as Transcriptional Coactivators for Steroidogenic Factor 1 in Steroidogenesis

Bin Xu, Wei-Hsiung Yang, Isabelle Gerin, Chang-Deng Hu, Gary D. Hammer, Ronald J. Koenig

Mol Cell Biol. 2009 Apr; 29(7): 1719–1734. Published online 2009 Feb 2. doi: 10.1128/MCB.01010-08

PMCID:: PMC2655620

Abstract Article PDF–1.6M

Select item 260273914.

Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita

M G Shaikh, L Boyes, H Kingston, R Collins, G T N Besley, B Padmakumar, O Ismayl, I Hughes, C M Hall, C Hellerud, J C Achermann, P E Clayton

J Med Genet. 2008 Sep; 45(9): e1. Published online 2008 Aug 26. doi: 10.1136/jmg.2007.055129

PMCID:: PMC2602739

Abstract Article PDF–653K

Select item 258755615.

The structure of corepressor Dax-1 bound to its target nuclear receptor LRH-1

Elena P. Sablin, April Woods, Irina N. Krylova, Peter Hwang, Holly A. Ingraham, Robert J. Fletterick

Proc Natl Acad Sci U S A. 2008 Nov 25; 105(47): 18390–18395. Published online 2008 Nov 17. doi: 10.1073/pnas.0808936105

PMCID:: PMC2587556

Abstract Article PDF–2.0M

Select item 186508016.

Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (SF1/Ad4BP, NR5A1) in children and adults with primary adrenal failure: ten years' experience

Lin Lin, Wen-Xia Gu, Gokhan Ozisik, Wing S. To, Catherine J. Owen, J. Larry Jameson, John C. Achermann

J Clin Endocrinol Metab. Author manuscript; available in PMC 2007 May 3.

Published in final edited form as: J Clin Endocrinol Metab. 2006 Aug; 91(8): 3048–3054. Published online 2006 May 9. doi: 10.1210/jc.2006-0603

PMCID:: PMC1865080

Abstract Article PDF–288K

Select item 37743717.

A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism

Antoine Tabarin, John C. Achermann, Dominique Recan, Véronique Bex, Xavier Bertagna, Sophie Christin-Maitre, Masafumi Ito, J. Larry Jameson, Philippe Bouchard

J Clin Invest. 2000 Feb 1; 105(3): 321–328. doi: 10.1172/JCI7212

PMCID:: PMC377437

Abstract Article PDF–580K

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