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Items: 1 to 50 of 61

1.

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.

van der Knaap MS, Bugiani M, Mendes MI, Riley LG, Smith DEC, Rudinger-Thirion J, Frugier M, Breur M, Crawford J, van Gaalen J, Schouten M, Willems M, Waisfisz Q, Mau-Them FT, Rodenburg RJ, Taft RJ, Keren B, Christodoulou J, Depienne C, Simons C, Salomons GS, Mochel F.

Neurology. 2019 Feb 8. pii: 10.1212/WNL.0000000000007098. doi: 10.1212/WNL.0000000000007098. [Epub ahead of print]

PMID:
30737337
2.

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.

Rius R, Riley LG, Guo Y, Menezes M, Compton AG, Van Bergen NJ, Gayevskiy V, Cowley MJ, Cummings BB, Adams L, Ellaway C, Thorburn DR, Hakonarson H, Christodoulou J.

Mol Genet Metab. 2019 Jan;126(1):77-82. doi: 10.1016/j.ymgme.2018.12.002. Epub 2018 Dec 11.

PMID:
30558828
3.

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.

Riley LG, Heeney MM, Rudinger-Thirion J, Frugier M, Campagna DR, Zhou R, Hale GA, Hilliard LM, Kaplan JA, Kwiatkowski JL, Sieff CA, Steensma DP, Rennings AJ, Simons A, Schaap N, Roodenburg RJ, Kleefstra T, Arenillas L, Fita-Torró J, Ahmed R, Abboud M, Bechara E, Farah R, Tamminga RY, Bottomley SS, Sanchez M, Swinkels DW, Christodoulou J, Fleming MD.

Haematologica. 2018 Jul 19. pii: haematol.2017.182659. doi: 10.3324/haematol.2017.182659. [Epub ahead of print]

4.

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.

Coman D, Vissers LELM, Riley LG, Kwint MP, Hauck R, Koster J, Geuer S, Hopkins S, Hallinan B, Sweetman L, Engelke UFH, Burrow TA, Cardinal J, McGill J, Inwood A, Gurnsey C, Waterham HR, Christodoulou J, Wevers RA, Pitt J.

Am J Hum Genet. 2018 Jul 5;103(1):125-130. doi: 10.1016/j.ajhg.2018.05.004. Epub 2018 Jun 14.

5.

EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.

Balasubramaniam S, Riley LG, Vasudevan A, Cowley MJ, Gayevskiy V, Sue CM, Edwards C, Edkins E, Junckerstorff R, Kiraly-Borri C, Rowe P, Christodoulou J.

JIMD Rep. 2018;42:19-29. doi: 10.1007/8904_2017_71. Epub 2017 Nov 21.

6.

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.

Nafisinia M, Riley LG, Gold WA, Bhattacharya K, Broderick CR, Thorburn DR, Simons C, Christodoulou J.

PLoS One. 2017 Jun 8;12(6):e0178125. doi: 10.1371/journal.pone.0178125. eCollection 2017.

7.

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.

Gold WA, Sobreira N, Wiame E, Marbaix A, Van Schaftingen E, Franzka P, Riley LG, Worgan L, Hübner CA, Christodoulou J, Adès LC.

Am J Med Genet A. 2017 Aug;173(8):2246-2250. doi: 10.1002/ajmg.a.38292. Epub 2017 Jun 2.

PMID:
28574218
8.

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

Balasubramaniam S, Riley LG, Bratkovic D, Ketteridge D, Manton N, Cowley MJ, Gayevskiy V, Roscioli T, Mohamed M, Gardeitchik T, Morava E, Christodoulou J.

J Inherit Metab Dis. 2017 Sep;40(5):745-747. doi: 10.1007/s10545-017-0036-4. Epub 2017 Apr 13.

PMID:
28409271
9.

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

Riley LG, Cowley MJ, Gayevskiy V, Roscioli T, Thorburn DR, Prelog K, Bahlo M, Sue CM, Balasubramaniam S, Christodoulou J.

J Inherit Metab Dis. 2017 Mar;40(2):261-269. doi: 10.1007/s10545-016-0010-6. Epub 2016 Dec 19.

PMID:
27995398
10.

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

Heimer G, Kerätär JM, Riley LG, Balasubramaniam S, Eyal E, Pietikäinen LP, Hiltunen JK, Marek-Yagel D, Hamada J, Gregory A, Rogers C, Hogarth P, Nance MA, Shalva N, Veber A, Tzadok M, Nissenkorn A, Tonduti D, Renaldo F; University of Washington Center for Mendelian Genomics, Kraoua I, Panteghini C, Valletta L, Garavaglia B, Cowley MJ, Gayevskiy V, Roscioli T, Silberstein JM, Hoffmann C, Raas-Rothschild A, Tiranti V, Anikster Y, Christodoulou J, Kastaniotis AJ, Ben-Zeev B, Hayflick SJ.

Am J Hum Genet. 2016 Dec 1;99(6):1229-1244. doi: 10.1016/j.ajhg.2016.09.021. Epub 2016 Nov 3.

11.

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.

Alodaib A, Sobreira N, Gold WA, Riley LG, Van Bergen NJ, Wilson MJ, Bennetts B, Thorburn DR, Boehm C, Christodoulou J.

Eur J Hum Genet. 2016 Jan;25(1):79-84. doi: 10.1038/ejhg.2016.128. Epub 2016 Oct 19.

12.

Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.

Nafisinia M, Guo Y, Dang X, Li J, Chen Y, Zhang J, Lake NJ, Gold WA, Riley LG, Thorburn DR, Keating B, Xu X, Hakonarson H, Christodoulou J.

JIMD Rep. 2017;32:117-124. doi: 10.1007/8904_2016_541. Epub 2016 Jun 26.

13.

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.

Riley LG, Rudinger-Thirion J, Schmitz-Abe K, Thorburn DR, Davis RL, Teo J, Arbuckle S, Cooper ST, Campagna DR, Frugier M, Markianos K, Sue CM, Fleming MD, Christodoulou J.

JIMD Rep. 2016;28:49-57. Epub 2015 Nov 5.

14.

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.

Guo Y, Menezes MJ, Menezes MP, Liang J, Li D, Riley LG, Clarke NF, Andrews PI, Tian L, Webster R, Wang F, Liu X, Shen Y, Thorburn DR, Keating BJ, Engel A, Hakonarson H, Christodoulou J, Xu X.

Neuromuscul Disord. 2015 Mar;25(3):257-61. doi: 10.1016/j.nmd.2014.11.017. Epub 2014 Dec 10.

15.

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.

Menezes MJ, Guo Y, Zhang J, Riley LG, Cooper ST, Thorburn DR, Li J, Dong D, Li Z, Glessner J, Davis RL, Sue CM, Alexander SI, Arbuckle S, Kirwan P, Keating BJ, Xu X, Hakonarson H, Christodoulou J.

Hum Mol Genet. 2015 Apr 15;24(8):2297-307. doi: 10.1093/hmg/ddu747. Epub 2015 Jan 2.

PMID:
25556185
16.

Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.

Miller DK, Menezes MJ, Simons C, Riley LG, Cooper ST, Grimmond SM, Thorburn DR, Christodoulou J, Taft RJ.

PLoS One. 2014 Aug 12;9(8):e104879. doi: 10.1371/journal.pone.0104879. eCollection 2014.

17.

The influence of protein fractions from bovine colostrum digested in vivo and in vitro on human intestinal epithelial cell proliferation.

Morgan AJ, Riley LG, Sheehy PA, Wynn PC.

J Dairy Res. 2014 Feb;81(1):73-81. doi: 10.1017/S0022029913000654.

PMID:
24433585
18.

Plasma nesfatin-1 is not affected by long-term food restriction and does not predict rematuration among iteroparous female rainbow trout (Oncorhynchus mykiss).

Caldwell LK, Pierce AL, Riley LG, Duncan CA, Nagler JJ.

PLoS One. 2014 Jan 9;9(1):e85700. doi: 10.1371/journal.pone.0085700. eCollection 2014.

19.

Mitochondrial respiratory chain disorders in childhood: insights into diagnosis and management in the new era of genomic medicine.

Menezes MJ, Riley LG, Christodoulou J.

Biochim Biophys Acta. 2014 Apr;1840(4):1368-79. doi: 10.1016/j.bbagen.2013.12.025. Epub 2013 Dec 28. Review.

PMID:
24380876
20.

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

Riley LG, Menezes MJ, Rudinger-Thirion J, Duff R, de Lonlay P, Rotig A, Tchan MC, Davis M, Cooper ST, Christodoulou J.

Orphanet J Rare Dis. 2013 Dec 17;8:193. doi: 10.1186/1750-1172-8-193.

21.

Different forms of ghrelin exhibit distinct biological roles in tilapia.

Riley LG.

Front Endocrinol (Lausanne). 2013 Sep 3;4:118. doi: 10.3389/fendo.2013.00118. Review.

22.

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.

Lim SC, Friemel M, Marum JE, Tucker EJ, Bruno DL, Riley LG, Christodoulou J, Kirk EP, Boneh A, DeGennaro CM, Springer M, Mootha VK, Rouault TA, Leimkühler S, Thorburn DR, Compton AG.

Hum Mol Genet. 2013 Nov 15;22(22):4460-73. doi: 10.1093/hmg/ddt295. Epub 2013 Jun 28.

23.

Acute stress inhibits food intake and alters ghrelin signaling in the brain of tilapia (Oreochromis mossambicus).

Upton KR, Riley LG.

Domest Anim Endocrinol. 2013 Apr;44(3):157-64. doi: 10.1016/j.domaniend.2012.10.001. Epub 2012 Nov 15.

PMID:
23291012
24.

Cortisol treatment reduces ghrelin signaling and food intake in tilapia, Oreochromis mossambicus.

Janzen WJ, Duncan CA, Riley LG.

Domest Anim Endocrinol. 2012 Oct;43(3):251-9. doi: 10.1016/j.domaniend.2012.04.003. Epub 2012 May 3.

PMID:
22657576
25.

Pre- and postprandial changes in orexigenic and anorexigenic factors in channel catfish (Ictalurus punctatus).

Peterson BC, Waldbieser GC, Riley LG Jr, Upton KR, Kobayashi Y, Small BC.

Gen Comp Endocrinol. 2012 Apr 1;176(2):231-9. doi: 10.1016/j.ygcen.2012.01.022. Epub 2012 Feb 16.

PMID:
22366470
26.

Differential roles for octanoylated and decanoylated ghrelins in regulating appetite and metabolism.

Schwandt SE, Peddu SC, Riley LG.

Int J Pept. 2010;2010. pii: 275804. doi: 10.1155/2010/275804. Epub 2010 Mar 17.

27.

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M, Compton A, Lim SC, Thorburn D, Ryan MT, Giegé R, Bahlo M, Christodoulou J.

Am J Hum Genet. 2010 Jul 9;87(1):52-9. doi: 10.1016/j.ajhg.2010.06.001.

28.

The influence of extracellular matrix and prolactin on global gene expression profiles of primary bovine mammary epithelial cells in vitro.

Riley LG, Gardiner-Garden M, Thomson PC, Wynn PC, Williamson P, Raadsma HW, Sheehy PA.

Anim Genet. 2010 Feb;41(1):55-63. doi: 10.1111/j.1365-2052.2009.01964.x. Epub 2009 Sep 29.

PMID:
19793270
29.

Glucose regulates ghrelin, neuropeptide Y, and the GH/IGF-I axis in the tilapia, Oreochromis mossambicus.

Riley LG Jr, Walker AP, Dorough CP, Schwandt SE, Grau EG.

Comp Biochem Physiol A Mol Integr Physiol. 2009 Dec;154(4):541-6. doi: 10.1016/j.cbpa.2009.08.018. Epub 2009 Sep 6.

PMID:
19735736
30.

Identification and genomic sequence of a ghrelin receptor (GHS-R)-like receptor in the Mozambique tilapia, Oreochromis mossambicus.

Kaiya H, Riley LG, Janzen W, Hirano T, Grau EG, Miyazato M, Kangawa K.

Zoolog Sci. 2009 May;26(5):330-7. doi: 10.2108/zsj.26.330.

PMID:
19715502
31.

Plasma ghrelin and growth hormone regulation in response to metabolic state in hybrid striped bass: effects of feeding, ghrelin and insulin-like growth factor-I on in vivo and in vitro GH secretion.

Picha ME, Strom CN, Riley LG, Walker AA, Won ET, Johnstone WM, Borski RJ.

Gen Comp Endocrinol. 2009 May;161(3):365-72. doi: 10.1016/j.ygcen.2009.01.026. Epub 2009 Feb 12.

PMID:
19523371
32.

A functional genomics approach to evaluate candidate genes located in a QTL interval for milk production traits on BTA6.

Sheehy PA, Riley LG, Raadsma HW, Williamson P, Wynn PC.

Anim Genet. 2009 Aug;40(4):492-8. doi: 10.1111/j.1365-2052.2009.01862.x. Epub 2009 Mar 18.

PMID:
19392827
33.

Pre- and postprandial effects on ghrelin signaling in the brain and on the GH/IGF-I axis in the Mozambique tilapia (Oreochromis mossambicus).

Peddu SC, Breves JP, Kaiya H, Gordon Grau E, Riley LG Jr.

Gen Comp Endocrinol. 2009 May;161(3):412-8. doi: 10.1016/j.ygcen.2009.02.008. Epub 2009 Feb 24.

PMID:
19245815
34.

Effects of o,p'-DDE, heptachlor, and 17beta-estradiol on vitellogenin gene expression and the growth hormone/insulin-like growth factor-I axis in the tilapia, Oreochromis mossambicus.

Davis LK, Visitacion N, Riley LG, Hiramatsu N, Sullivan CV, Hirano T, Grau EG.

Comp Biochem Physiol C Toxicol Pharmacol. 2009 May;149(4):507-14. doi: 10.1016/j.cbpc.2008.11.007. Epub 2008 Dec 6.

PMID:
19101654
35.

Absence of effects of short-term fasting on plasma ghrelin and brain expression of ghrelin receptors in the tilapia, Oreochromis mossambicus.

Riley LG, Fox BK, Breves JP, Kaiya H, Dorough CP, Hirano T, Grau EG.

Zoolog Sci. 2008 Aug;25(8):821-7. doi: 10.2108/zsj.25.821.

PMID:
18795816
36.

The role of native bovine alpha-lactalbumin in bovine mammary epithelial cell apoptosis and casein expression.

Riley LG, Wynn PC, Williamson P, Sheehy PA.

J Dairy Res. 2008 Aug;75(3):319-25. doi: 10.1017/S0022029908003403.

PMID:
18680616
37.

Lactoferrin decreases primary bovine mammary epithelial cell viability and casein expression.

Riley LG, Williamson P, Wynn PC, Sheehy PA.

J Dairy Res. 2008 May;75(2):135-41. doi: 10.1017/S0022029907002920. Epub 2008 Jan 29.

PMID:
18226297
38.

Effects of homologous ghrelins on the growth hormone/insulin-like growth factor-I axis in the tilapia, Oreochromis mossambicus.

Fox BK, Riley LG, Dorough C, Kaiya H, Hirano T, Grau EG.

Zoolog Sci. 2007 Apr;24(4):391-400.

PMID:
17867837
39.

Identification of a ghrelin-like peptide in two species of shark, Sphyrna lewini and Carcharhinus melanopterus.

Kawakoshi A, Kaiya H, Riley LG, Hirano T, Grau EG, Miyazato M, Hosoda H, Kangawa K.

Gen Comp Endocrinol. 2007 May 1;151(3):259-68. Epub 2007 Jan 25.

PMID:
17362948
40.

Effects of environmental salinity and temperature on osmoregulatory ability, organic osmolytes, and plasma hormone profiles in the Mozambique tilapia (Oreochromis mossambicus).

Fiess JC, Kunkel-Patterson A, Mathias L, Riley LG, Yancey PH, Hirano T, Grau EG.

Comp Biochem Physiol A Mol Integr Physiol. 2007 Feb;146(2):252-64. Epub 2006 Oct 21.

PMID:
17134926
41.

Lactational performance of Quackenbush Swiss line 5 mice.

Riley LG, Zubair M, Thomson PC, Holt M, Xavier SP, Wynn PC, Sheehy PA.

J Anim Sci. 2006 Aug;84(8):2118-25.

PMID:
16864872
42.

A radioassay for synaptic core complex assembly: screening of herbal extracts for effectors.

Riley LG, Roufogalis BD, Li GQ, Weiss AS.

Anal Biochem. 2006 Oct 1;357(1):50-7. Epub 2006 Jun 13.

PMID:
16824472
43.
44.

Differential expression of tuberoinfundibular peptide 38 and glucose-6-phosphatase in tilapia.

Shoemaker JM, Riley LG, Hirano T, Grau EG, Rubin DA.

Gen Comp Endocrinol. 2006 Apr;146(2):186-94. Epub 2005 Dec 20.

PMID:
16375902
45.

Long-term treatment of ghrelin stimulates feeding, fat deposition, and alters the GH/IGF-I axis in the tilapia, Oreochromis mossambicus.

Riley LG, Fox BK, Kaiya H, Hirano T, Grau EG.

Gen Comp Endocrinol. 2005 May 15;142(1-2):234-40.

PMID:
15862568
47.

Effects of environmental salinity and 17alpha-methyltestosterone on growth and oxygen consumption in the tilapia, Oreochromis mossambicus.

Sparks RT, Shepherd BS, Ron B, Harold Richman N 3rd, Riley LG, Iwama GK, Hirano T, Gordon Grau E.

Comp Biochem Physiol B Biochem Mol Biol. 2003 Dec;136(4):657-65.

PMID:
14662292
48.
49.

Identification of tilapia ghrelin and its effects on growth hormone and prolactin release in the tilapia, Oreochromis mossambicus.

Kaiya H, Kojima M, Hosoda H, Riley LG, Hirano T, Grau EG, Kangawa K.

Comp Biochem Physiol B Biochem Mol Biol. 2003 Jul;135(3):421-9.

PMID:
12831762
50.

Amidated fish ghrelin: purification, cDNA cloning in the Japanese eel and its biological activity.

Kaiya H, Kojima M, Hosoda H, Riley LG, Hirano T, Grau EG, Kangawa K.

J Endocrinol. 2003 Mar;176(3):415-23.

PMID:
12630926

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