Models of Congenital Adrenal Hyperplasia for Gene Therapies Testing.
International Journal Of Molecular Sciences
Glazova, Olga O; Bastrich, Asya A; Deviatkin, Andrei A; Onyanov, Nikita N; Kaziakhmedova, Samira S; Shevkova, Liudmila L; Sakr, Nawar N; Petrova, Daria D; Vorontsova, Maria V MV; Volchkov, Pavel P
Publication Date: 2023-03-10
Variant appearance in text: CYP11A1: 940G>A; Glu314Lys
Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 Deficiency.
Case Reports In Endocrinology
Garcia, Cyril C; Dusaud, Marie M; Chiron, Paul P; Sollier, Mathilde M; Nassouri, Sika S; Groussin, Lionel L; Sibony, Mathilde M; Goursaud, Claire C; Roucher-Boulez, Florence F; Bordier, Lyse L
Publication Date: 2021
Variant appearance in text: CYP11A1: 940G>A; E314K
Morphologic and Molecular Characterization of Adrenals and Adrenal Rest Affected by Congenital Adrenal Hyperplasia.
Frontiers In Endocrinology
Kolli, Vipula V; da Cunha, Isabela Werneck IW; Kim, SunA S; Iben, James R JR; Mallappa, Ashwini A; Li, Tianwei T; Gaynor, Alison A; Coon, Steven L SL; Quezado, Martha M MM; Merke, Deborah P DP
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
Journal Of The Endocrine Society
Buonocore, Federica F; Maharaj, Avinaash A; Qamar, Younus Y; Koehler, Katrin K; Suntharalingham, Jenifer P JP; Chan, Li F LF; Ferraz-de-Souza, Bruno B; Hughes, Claire R CR; Lin, Lin L; Prasad, Rathi R; Allgrove, Jeremy J; Andrews, Edward T ET; Buchanan, Charles R CR; Cheetham, Tim D TD; Crowne, Elizabeth C EC; Davies, Justin H JH; Gregory, John W JW; Hindmarsh, Peter C PC; Hulse, Tony T; Krone, Nils P NP; Shah, Pratik P; Shaikh, M Guftar MG; Roberts, Catherine C; Clayton, Peter E PE; Dattani, Mehul T MT; Thomas, N Simon NS; Huebner, Angela A; Clark, Adrian J AJ; Metherell, Louise A LA; Achermann, John C JC
Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis.
European Journal Of Endocrinology
Kallali, Wafa W; Gray, Ewan E; Mehdi, Muhammad Zain MZ; Lindsay, Robert R; Metherell, Louise A LA; Buonocore, Federica F; Suntharalingham, Jenifer P JP; Achermann, John C JC; Donaldson, Malcolm M
Publication Date: 2020-03
Variant appearance in text: CYP11A1: 940G>A; rs6161
Sonographic features of the testicular adrenal rests tumors in patients with congenital adrenal hyperplasia: a single-center experience and literature review.
Orphanet Journal Of Rare Diseases
Ma, Li L; Xia, Yu Y; Wang, Linlin L; Liu, Ruifeng R; Huang, Xuepei X; Ye, Tiantian T; Zhang, Li L; Zhu, Qingli Q; Li, Jianchu J; Jiang, Yuxin Y
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: CYP11A1: 940G>A; Glu314Lys; rs6161
Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).
Endocrine Connections
Hughes, L A LA; McKay-Bounford, K K; Webb, E A EA; Dasani, P P; Clokie, S S; Chandran, H H; McCarthy, L L; Mohamed, Z Z; Kirk, J M W JMW; Krone, N P NP; Allen, S S; Cole, T R P TRP
Publication Date: 2019-02
Variant appearance in text: CYP11A1: 940G>A; Glu314Lys
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: CYP11A1: E314K; rs6161
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
Journal Of The Endocrine Society
Maharaj, Avinaash A; Buonocore, Federica F; Meimaridou, Eirini E; Ruiz-Babot, Gerard G; Guasti, Leonardo L; Peng, Hwei-Ming HM; Capper, Cameron P CP; Burgos-Tirado, Neikelyn N; Prasad, Rathi R; Hughes, Claire R CR; Maudhoo, Ashwini A; Crowne, Elizabeth E; Cheetham, Timothy D TD; Brain, Caroline E CE; Suntharalingham, Jenifer P JP; Striglioni, Niccolò N; Yuksel, Bilgin B; Gurbuz, Fatih F; Gupta, Sangay S; Lindsay, Robert R; Couch, Robert R; Spoudeas, Helen A HA; Guran, Tulay T; Johnson, Stephanie S; Fowler, Dallas J DJ; Conwell, Louise S LS; McInerney-Leo, Aideen M AM; Drui, Delphine D; Cariou, Bertrand B; Lopez-Siguero, Juan P JP; Harris, Mark M; Duncan, Emma L EL; Hindmarsh, Peter C PC; Auchus, Richard J RJ; Donaldson, Malcolm D MD; Achermann, John C JC; Metherell, Louise A LA
Publication Date: 2019-01-01
Variant appearance in text: CYP11A1: 940G>A; E314K; rs6161
Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells.
Cell Reports
Ruiz-Babot, Gerard G; Balyura, Mariya M; Hadjidemetriou, Irene I; Ajodha, Sharon J SJ; Taylor, David R DR; Ghataore, Lea L; Taylor, Norman F NF; Schubert, Undine U; Ziegler, Christian G CG; Storr, Helen L HL; Druce, Maralyn R MR; Gevers, Evelien F EF; Drake, William M WM; Srirangalingam, Umasuthan U; Conway, Gerard S GS; King, Peter J PJ; Metherell, Louise A LA; Bornstein, Stefan R SR; Guasti, Leonardo L
Publication Date: 2018-01-30
Variant appearance in text: CYP11A1: 940G>A; Glu314Lys
Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.
Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05
Variant appearance in text: CYP11A1: E314K; rs6161
1,25D3 prevents CD8(+)Tc2 skewing and asthma development through VDR binding changes to the Cyp11a1 promoter.
Nature Communications
Schedel, Michaela M; Jia, Yi Y; Michel, Sven S; Takeda, Katsuyuki K; Domenico, Joanne J; Joetham, Anthony A; Ning, Fangkun F; Strand, Matthew M; Han, Junyan J; Wang, Meiqin M; Lucas, Joseph J JJ; Vogelberg, Christian C; Kabesch, Michael M; O'Connor, Brian P BP; Gelfand, Erwin W EW
Recurrent inactivating RASA2 mutations in melanoma.
Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12
Variant appearance in text: CYP11A1: 940G>A; E314K; rs6161
Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.
Nature Communications
Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: CYP11A1: E314K; rs6161
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014
Variant appearance in text: CYP11A1: E314K; rs6161