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Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ, Gauthier MA, Chan CL, Thompson TJ, De Sousa SMC, Puttick C, Grady JP, Gayevskiy V, Tao J, Ying K, Cipponi A, Deng N, Swarbrick A, Thomas ML, Lord RV, Johns AL, Kohonen-Corish M, O'Toole SA, Clark J, Mueller SA, Gupta R, McCormack AI, Dinger ME, Cowley MJ; kConFab.

Sci Rep. 2019 Nov 19;9(1):17052. doi: 10.1038/s41598-019-52000-3.


Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.

Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke SA, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, Dinger M, Buckley M, Roscioli T.

J Med Genet. 2019 Sep;56(9):629-638. doi: 10.1136/jmedgenet-2019-106019. Epub 2019 May 25.


Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases.

McCabe MJ, Pinese M, Chan CL, Sheriff N, Thompson TJ, Grady J, Wong M, Gauthier MA, Puttick C, Gayevskiy V, Hajdu E, Wong SQ, Barrett W, Earls P, Lukeis R, Cheng YY, Lin RCY, Thomas DM, Watkins DN, Dinger ME, McCormack AI, Cowley MJ.

Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2). pii: a003764. doi: 10.1101/mcs.a003764. Print 2019 Apr.


Low level exposure to inorganic mercury interferes with B cell receptor signaling in transitional type 1 B cells.

Gill R, McCabe MJ Jr, Rosenspire AJ.

Toxicol Appl Pharmacol. 2017 Sep 1;330:22-29. doi: 10.1016/j.taap.2017.06.022. Epub 2017 Jun 28.


Evaluation of Streck BCT and PAXgene Stabilised Blood Collection Tubes for Cell-Free Circulating DNA Studies in Plasma.

Warton K, Yuwono NL, Cowley MJ, McCabe MJ, So A, Ford CE.

Mol Diagn Ther. 2017 Oct;21(5):563-570. doi: 10.1007/s40291-017-0284-x.


Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours.

De Sousa SMC, McCabe MJ, Wu K, Roscioli T, Gayevskiy V, Brook K, Rawlings L, Scott HS, Thompson TJ, Earls P, Gill AJ, Cowley MJ, Dinger ME, McCormack AI.

Eur J Endocrinol. 2017 May;176(5):635-644. doi: 10.1530/EJE-16-0944. Epub 2017 Feb 20.


Dietary n-3 PUFAs augment caspase 8 activation in Staphylococcal aureus enterotoxin B stimulated T-cells.

Gill R, Jen KL, McCabe MJ, Rosenspire A.

Toxicol Appl Pharmacol. 2016 Oct 15;309:141-8. doi: 10.1016/j.taap.2016.09.002. Epub 2016 Sep 7.


Partial Loss of Function of the GHRH Receptor Leads to Mild Growth Hormone Deficiency.

Gregory LC, Alatzoglou KS, McCabe MJ, Hindmarsh PC, Saldanha JW, Romano N, Le Tissier P, Dattani MT.

J Clin Endocrinol Metab. 2016 Oct;101(10):3608-3615. Epub 2016 Aug 8.


Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease.

Mallawaarachchi AC, Hort Y, Cowley MJ, McCabe MJ, Minoche A, Dinger ME, Shine J, Furlong TJ.

Eur J Hum Genet. 2016 Nov;24(11):1584-1590. doi: 10.1038/ejhg.2016.48. Epub 2016 May 11.


Gonadotropin suppression in men leads to a reduction in claudin-11 at the Sertoli cell tight junction.

McCabe MJ, Tarulli GA, Laven-Law G, Matthiesson KL, Meachem SJ, McLachlan RI, Dinger ME, Stanton PG.

Hum Reprod. 2016 Apr;31(4):875-86. doi: 10.1093/humrep/dew009. Epub 2016 Feb 18.


Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans.

Gaston-Massuet C, McCabe MJ, Scagliotti V, Young RM, Carreno G, Gregory LC, Jayakody SA, Pozzi S, Gualtieri A, Basu B, Koniordou M, Wu CI, Bancalari RE, Rahikkala E, Veijola R, Lopponen T, Graziola F, Turton J, Signore M, Mousavy Gharavy SN, Charolidi N, Sokol SY, Andoniadou CL, Wilson SW, Merrill BJ, Dattani MT, Martinez-Barbera JP.

Proc Natl Acad Sci U S A. 2016 Feb 2;113(5):E548-57. doi: 10.1073/pnas.1503346113. Epub 2016 Jan 13.


Claudin-11 and occludin are major contributors to Sertoli cell tight junction function, in vitro.

McCabe MJ, Foo CF, Dinger ME, Smooker PM, Stanton PG.

Asian J Androl. 2016 Jul-Aug;18(4):620-6. doi: 10.4103/1008-682X.163189.


Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD).

McCabe MJ, Hu Y, Gregory LC, Gaston-Massuet C, Alatzoglou KS, Saldanha JW, Gualtieri A, Thankamony A, Hughes I, Townshend S, Martinez-Barbera JP, Bouloux PM, Dattani MT.

Mol Cell Endocrinol. 2015 Dec 5;417:63-72. doi: 10.1016/j.mce.2015.09.010. Epub 2015 Sep 14.


Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation.

Gregory LC, Humayun KN, Turton JP, McCabe MJ, Rhodes SJ, Dattani MT.

J Clin Endocrinol Metab. 2015 Jun;100(6):2158-64. doi: 10.1210/jc.2014-4484. Epub 2015 Apr 14.


Docosahexaenoic acid counteracts attenuation of CD95-induced cell death by inorganic mercury.

Gill R, Lanni L, Jen KL, McCabe MJ Jr, Rosenspire A.

Toxicol Appl Pharmacol. 2015 Jan 1;282(1):61-7. doi: 10.1016/j.taap.2014.11.005. Epub 2014 Nov 22.


The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism.

Gregory LC, Gaston-Massuet C, Andoniadou CL, Carreno G, Webb EA, Kelberman D, McCabe MJ, Panagiotakopoulos L, Saldanha JW, Spoudeas HA, Torpiano J, Rossi M, Raine J, Canham N, Martinez-Barbera JP, Dattani MT.

Clin Endocrinol (Oxf). 2015 May;82(5):728-38. doi: 10.1111/cen.12637. Epub 2014 Dec 9.


Genetic aspects of hypothalamic and pituitary gland development.

McCabe MJ, Dattani MT.

Handb Clin Neurol. 2014;124:3-15. doi: 10.1016/B978-0-444-59602-4.00001-0. Review.


Elements of the B cell signalosome are differentially affected by mercury intoxication.

Gill RF, McCabe MJ, Rosenspire AJ.

Autoimmune Dis. 2014;2014:239358. doi: 10.1155/2014/239358. Epub 2014 May 4.


Diagnosis and evaluation of hypogonadism.

McCabe MJ, Bancalari RE, Dattani MT.

Pediatr Endocrinol Rev. 2014 Feb;11 Suppl 2:214-29. Review.


ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.

Webb EA, AlMutair A, Kelberman D, Bacchelli C, Chanudet E, Lescai F, Andoniadou CL, Banyan A, Alsawaid A, Alrifai MT, Alahmesh MA, Balwi M, Mousavy-Gharavy SN, Lukovic B, Burke D, McCabe MJ, Kasia T, Kleta R, Stupka E, Beales PL, Thompson DA, Chong WK, Alkuraya FS, Martinez-Barbera JP, Sowden JC, Dattani MT.

Brain. 2013 Oct;136(Pt 10):3096-105. doi: 10.1093/brain/awt218. Epub 2013 Sep 10.


Structural pituitary abnormalities associated with CHARGE syndrome.

Gregory LC, Gevers EF, Baker J, Kasia T, Chong K, Josifova DJ, Caimari M, Bilan F, McCabe MJ, Dattani MT.

J Clin Endocrinol Metab. 2013 Apr;98(4):E737-43. doi: 10.1210/jc.2012-3467. Epub 2013 Mar 22.


Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.

McCabe MJ, Gaston-Massuet C, Gregory LC, Alatzoglou KS, Tziaferi V, Sbai O, Rondard P, Masumoto KH, Nagano M, Shigeyoshi Y, Pfeifer M, Hulse T, Buchanan CR, Pitteloud N, Martinez-Barbera JP, Dattani MT.

J Clin Endocrinol Metab. 2013 Mar;98(3):E547-57. doi: 10.1210/jc.2012-3067. Epub 2013 Feb 5.


Pituitary gland development: an update.

Bancalari RE, Gregory LC, McCabe MJ, Dattani MT.

Endocr Dev. 2012;23:1-15. doi: 10.1159/000341733. Epub 2012 Nov 23. Review.


Androgen initiates Sertoli cell tight junction formation in the hypogonadal (hpg) mouse.

McCabe MJ, Allan CM, Foo CF, Nicholls PK, McTavish KJ, Stanton PG.

Biol Reprod. 2012 Aug 23;87(2):38. doi: 10.1095/biolreprod.111.094318. Print 2012 Aug.


Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.

Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V, Elting MW, Padidela R, Plummer L, Martin C, Feng B, Zhang C, Zhou QY, Chen H, Mohammadi M, Quinton R, Sidis Y, Radovick S, Dattani MT, Pitteloud N.

J Clin Endocrinol Metab. 2012 Apr;97(4):E694-9. doi: 10.1210/jc.2011-2938. Epub 2012 Feb 8.


Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction.

McCabe MJ, Gaston-Massuet C, Tziaferi V, Gregory LC, Alatzoglou KS, Signore M, Puelles E, Gerrelli D, Farooqi IS, Raza J, Walker J, Kavanaugh SI, Tsai PS, Pitteloud N, Martinez-Barbera JP, Dattani MT.

J Clin Endocrinol Metab. 2011 Oct;96(10):E1709-18. doi: 10.1210/jc.2011-0454. Epub 2011 Aug 10.


Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.

McCabe MJ, Alatzoglou KS, Dattani MT.

Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):115-24. doi: 10.1016/j.beem.2010.06.008. Review.


Gonadotropins regulate rat testicular tight junctions in vivo.

McCabe MJ, Tarulli GA, Meachem SJ, Robertson DM, Smooker PM, Stanton PG.

Endocrinology. 2010 Jun;151(6):2911-22. doi: 10.1210/en.2009-1278. Epub 2010 Mar 31.


A population-based assessment of blood lead levels in relation to inflammation.

Songdej N, Winters PC, McCabe MJ Jr, van Wijngaarden E.

Environ Res. 2010 Apr;110(3):272-7. doi: 10.1016/j.envres.2009.12.008. Epub 2010 Jan 29.


T-cell receptor signaling is mediated by transient Lck activity, which is inhibited by inorganic mercury.

Ziemba SE, Menard SL, McCabe MJ Jr, Rosenspire AJ.

FASEB J. 2009 Jun;23(6):1663-71. doi: 10.1096/fj.08-117283. Epub 2009 Jan 23.


RelB is differentially regulated by IkappaB Kinase-alpha in B cells and mouse lung by cigarette smoke.

Yang SR, Yao H, Rajendrasozhan S, Chung S, Edirisinghe I, Valvo S, Fromm G, McCabe MJ Jr, Sime PJ, Phipps RP, Li JD, Bulger M, Rahman I.

Am J Respir Cell Mol Biol. 2009 Feb;40(2):147-58. doi: 10.1165/rcmb.2008-0207OC. Epub 2008 Aug 7.


Reduction of myeloid suppressor cell derived nitric oxide provides a mechanistic basis of lead enhancement of alloreactive CD4(+) T cell proliferation.

Farrer DG, Hueber S, Laiosa MD, Eckles KG, McCabe MJ Jr.

Toxicol Appl Pharmacol. 2008 Jun 1;229(2):135-45. doi: 10.1016/j.taap.2007.12.011. Epub 2008 Apr 22.


Sensitivity to sodium arsenite in human melanoma cells depends upon susceptibility to arsenite-induced mitotic arrest.

McNeely SC, Belshoff AC, Taylor BF, Fan TW, McCabe MJ Jr, Pinhas AR, States JC.

Toxicol Appl Pharmacol. 2008 Jun 1;229(2):252-61. doi: 10.1016/j.taap.2008.01.020. Epub 2008 Feb 5.


Gene-environment interactions between CD14 C-260T and endotoxin exposure on Foxp3+ and Foxp3- CD4+ lymphocyte numbers and total serum IgE levels in early childhood.

Williams LK, Oliver J, Peterson EL, Bobbitt KR, McCabe MJ Jr, Smolarek D, Havstad SL, Wegienka G, Burchard EG, Ownby DR, Johnson CC.

Ann Allergy Asthma Immunol. 2008 Feb;100(2):128-36. doi: 10.1016/S1081-1206(10)60421-8.


Exposure to inorganic mercury in vivo attenuates extrinsic apoptotic signaling in Staphylococcal aureus enterotoxin B stimulated T-cells.

Laiosa MD, Eckles KG, Langdon M, Rosenspire AJ, McCabe MJ Jr.

Toxicol Appl Pharmacol. 2007 Dec 15;225(3):238-50. Epub 2007 Jun 19.


Low and nontoxic inorganic mercury burdens attenuate BCR-mediated signal transduction.

McCabe MJ Jr, Laiosa MD, Li L, Menard SL, Mattingly RR, Rosenspire AJ.

Toxicol Sci. 2007 Oct;99(2):512-21. Epub 2007 Jul 26.


Arsenite slows S phase progression via inhibition of cdc25A dual specificity phosphatase gene transcription.

Lehmann GM, McCabe MJ Jr.

Toxicol Sci. 2007 Sep;99(1):70-8. Epub 2007 Jun 1.


Exit from arsenite-induced mitotic arrest is p53 dependent.

McNeely SC, Xu X, Taylor BF, Zacharias W, McCabe MJ Jr, States JC.

Environ Health Perspect. 2006 Sep;114(9):1401-6.


p53 suppression of arsenite-induced mitotic catastrophe is mediated by p21CIP1/WAF1.

Taylor BF, McNeely SC, Miller HL, Lehmann GM, McCabe MJ Jr, States JC.

J Pharmacol Exp Ther. 2006 Jul;318(1):142-51. Epub 2006 Apr 13.


Inorganic mercury inhibits the activation of LAT in T-cell receptor-mediated signal transduction.

Ziemba SE, Mattingly RR, McCabe MJ Jr, Rosenspire AJ.

Toxicol Sci. 2006 Jan;89(1):145-53. Epub 2005 Oct 26.


Inorganic mercury dissociates preassembled Fas/CD95 receptor oligomers in T lymphocytes.

Ziemba SE, McCabe MJ Jr, Rosenspire AJ.

Toxicol Appl Pharmacol. 2005 Aug 15;206(3):334-42. Epub 2005 Jan 8.


Blood lead level and risk of asthma.

Joseph CL, Havstad S, Ownby DR, Peterson EL, Maliarik M, McCabe MJ Jr, Barone C, Johnson CC.

Environ Health Perspect. 2005 Jul;113(7):900-4.


Lead enhances CD4+ T cell proliferation indirectly by targeting antigen presenting cells and modulating antigen-specific interactions.

Farrer DG, Hueber SM, McCabe MJ Jr.

Toxicol Appl Pharmacol. 2005 Sep 1;207(2):125-37.


Arsenite delays progression through each cell cycle phase and induces apoptosis following G2/M arrest in U937 myeloid leukemia cells.

McCollum G, Keng PC, States JC, McCabe MJ Jr.

J Pharmacol Exp Ther. 2005 May;313(2):877-87. Epub 2005 Feb 18.


Attenuation of CD95-induced apoptosis by inorganic mercury: caspase-3 is not a direct target of low levels of Hg2+.

McCabe MJ Jr, Eckles KG, Langdon M, Clarkson TW, Whitekus MJ, Rosenspire AJ.

Toxicol Lett. 2005 Jan 15;155(1):161-70.


Mechanisms and consequences of silica-induced apoptosis.

McCabe MJ Jr.

Toxicol Sci. 2003 Nov;76(1):1-2. No abstract available.


Inorganic mercury attenuates CD95-mediated apoptosis by interfering with formation of the death inducing signaling complex.

McCabe MJ Jr, Whitekus MJ, Hyun J, Eckles KG, McCollum G, Rosenspire AJ.

Toxicol Appl Pharmacol. 2003 Jul 15;190(2):146-56.


Arsenite disrupts mitosis and induces apoptosis in SV40-transformed human skin fibroblasts.

States JC, Reiners JJ Jr, Pounds JG, Kaplan DJ, Beauerle BD, McNeely SC, Mathieu P, McCabe MJ Jr.

Toxicol Appl Pharmacol. 2002 Apr 15;180(2):83-91. Erratum in: Toxicol Appl Pharmacol 2002 Sep 1;183(2):152.


Protein kinase C does not mediate the inhibitory action of lead on vitamin D3-dependent production of osteocalcin in osteoblastic bone cells.

Guity P, McCabe MJ Jr, Pitts DK, Santini RP, Pounds JG.

Toxicol Appl Pharmacol. 2002 Jan 15;178(2):109-16.


Immunomodulation by metals.

Lawrence DA, McCabe MJ Jr.

Int Immunopharmacol. 2002 Feb;2(2-3):293-302. Review.


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