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Items: 28

1.

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.

Guemez-Gamboa A, Çağlayan AO, Stanley V, Gregor A, Zaki MS, Saleem SN, Musaev D, McEvoy-Venneri J, Belandres D, Akizu N, Silhavy JL, Schroth J, Rosti RO, Copeland B, Lewis SM, Fang R, Issa MY, Per H, Gumus H, Bayram AK, Kumandas S, Akgumus GT, Erson-Omay EZ, Yasuno K, Bilguvar K, Heimer G, Pillar N, Shomron N, Weissglas-Volkov D, Porat Y, Einhorn Y, Gabriel S, Ben-Zeev B, Gunel M, Gleeson JG.

Ann Neurol. 2018 Nov;84(5):638-647. doi: 10.1002/ana.25327. Epub 2018 Oct 4.

2.

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.

Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, Mikati MA, İncecik F, Azam M, Borgatti R, Romaniello R, Boustany RM, Clericuzio CL, D'Arrigo S, Strømme P, Boltshauser E, Stanzial F, Mirabelli-Badenier M, Moroni I, Bertini E, Emma F, Steinlin M, Hildebrandt F, Johnson CA, Freilinger M, Vaux KK, Gabriel SB, Aza-Blanc P, Heynen-Genel S, Ideker T, Dynlacht BD, Lee JE, Valente EM, Kim J, Gleeson JG.

Elife. 2015 May 30;4:e06602. doi: 10.7554/eLife.06602.

3.

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.

Guemez-Gamboa A, Nguyen LN, Yang H, Zaki MS, Kara M, Ben-Omran T, Akizu N, Rosti RO, Rosti B, Scott E, Schroth J, Copeland B, Vaux KK, Cazenave-Gassiot A, Quek DQ, Wong BH, Tan BC, Wenk MR, Gunel M, Gabriel S, Chi NC, Silver DL, Gleeson JG.

Nat Genet. 2015 Jul;47(7):809-13. doi: 10.1038/ng.3311. Epub 2015 May 25.

4.

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.

Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagıroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG.

Nat Genet. 2015 May;47(5):528-34. doi: 10.1038/ng.3256. Epub 2015 Apr 6.

5.

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors.

Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HAA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çağlar C, Çağlar Ç, Dölen D, Baranoski JF, Kumandaş S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M.

Neuron. 2015 Jan 7;85(1):228. doi: 10.1016/j.neuron.2014.12.046. Epub 2015 Jan 7. No abstract available.

6.

Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.

Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çağlar C, Çağlar Ç, Dölen D, Baranoski JF, Kumandaş S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M.

Neuron. 2014 Dec 17;84(6):1226-39. doi: 10.1016/j.neuron.2014.12.014. Erratum in: Neuron. 2015 Jan 7;85(1):228. Neuron. 2015 Jan 7;85(1):228.

7.

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG.

Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363.

8.

Mutations in CSPP1 lead to classical Joubert syndrome.

Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, Pan R, Cai N, Abdellateef M, Gabriel S, Halbritter J, Hildebrandt F, van Bokhoven H, Gunel M, Gleeson JG.

Am J Hum Genet. 2014 Jan 2;94(1):80-6. doi: 10.1016/j.ajhg.2013.11.015. Epub 2013 Dec 19.

9.

AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.

Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, Naviaux RK, Van Vleet J, Fenstermaker AG, Silhavy JL, Scheliga JS, Toyama K, Morisaki H, Sonmez FM, Celep F, Oraby A, Zaki MS, Al-Baradie R, Faqeih EA, Saleh MA, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, Morisaki T, Holmes EW, Gleeson JG.

Cell. 2013 Aug 1;154(3):505-17. doi: 10.1016/j.cell.2013.07.005.

10.

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.

Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG.

Science. 2012 Oct 19;338(6105):394-7. doi: 10.1126/science.1224631. Epub 2012 Sep 6.

11.

Exome sequencing can improve diagnosis and alter patient management.

Dixon-Salazar TJ, Silhavy JL, Udpa N, Schroth J, Bielas S, Schaffer AE, Olvera J, Bafna V, Zaki MS, Abdel-Salam GH, Mansour LA, Selim L, Abdel-Hadi S, Marzouki N, Ben-Omran T, Al-Saana NA, Sonmez FM, Celep F, Azam M, Hill KJ, Collazo A, Fenstermaker AG, Novarino G, Akizu N, Garimella KV, Sougnez C, Russ C, Gabriel SB, Gleeson JG.

Sci Transl Med. 2012 Jun 13;4(138):138ra78. doi: 10.1126/scitranslmed.3003544.

12.

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG.

Nat Genet. 2012 Jan 15;44(2):193-9. doi: 10.1038/ng.1078.

13.

Subcellular spatial regulation of canonical Wnt signalling at the primary cilium.

Lancaster MA, Schroth J, Gleeson JG.

Nat Cell Biol. 2011 Jun;13(6):700-7. doi: 10.1038/ncb2259. Epub 2011 May 22.

14.

Adenylate cyclase 6 determines cAMP formation and aquaporin-2 phosphorylation and trafficking in inner medulla.

Rieg T, Tang T, Murray F, Schroth J, Insel PA, Fenton RA, Hammond HK, Vallon V.

J Am Soc Nephrol. 2010 Dec;21(12):2059-68. doi: 10.1681/ASN.2010040409. Epub 2010 Sep 23.

15.

TRB3 is stimulated in diabetic kidneys, regulated by the ER stress marker CHOP, and is a suppressor of podocyte MCP-1.

Morse E, Schroth J, You YH, Pizzo DP, Okada S, Ramachandrarao S, Vallon V, Sharma K, Cunard R.

Am J Physiol Renal Physiol. 2010 Nov;299(5):F965-72. doi: 10.1152/ajprenal.00236.2010. Epub 2010 Jul 21.

16.

SGLT2 mediates glucose reabsorption in the early proximal tubule.

Vallon V, Platt KA, Cunard R, Schroth J, Whaley J, Thomson SC, Koepsell H, Rieg T.

J Am Soc Nephrol. 2011 Jan;22(1):104-12. doi: 10.1681/ASN.2010030246. Epub 2010 Jul 8.

17.

Dietary Na+ inhibits the open probability of the epithelial sodium channel in the kidney by enhancing apical P2Y2-receptor tone.

Pochynyuk O, Rieg T, Bugaj V, Schroth J, Fridman A, Boss GR, Insel PA, Stockand JD, Vallon V.

FASEB J. 2010 Jun;24(6):2056-65. doi: 10.1096/fj.09-151506. Epub 2010 Jan 22.

18.

Expression and phosphorylation of the Na+-Cl- cotransporter NCC in vivo is regulated by dietary salt, potassium, and SGK1.

Vallon V, Schroth J, Lang F, Kuhl D, Uchida S.

Am J Physiol Renal Physiol. 2009 Sep;297(3):F704-12. doi: 10.1152/ajprenal.00030.2009. Epub 2009 Jul 1.

19.

Adenosine A(1) receptors determine glomerular hyperfiltration and the salt paradox in early streptozotocin diabetes mellitus.

Vallon V, Schroth J, Satriano J, Blantz RC, Thomson SC, Rieg T.

Nephron Physiol. 2009;111(3):p30-8. doi: 10.1159/000208211. Epub 2009 Mar 10.

20.

Thiazolidinedione-induced fluid retention is independent of collecting duct alphaENaC activity.

Vallon V, Hummler E, Rieg T, Pochynyuk O, Bugaj V, Schroth J, Dechenes G, Rossier B, Cunard R, Stockand J.

J Am Soc Nephrol. 2009 Apr;20(4):721-9. doi: 10.1681/ASN.2008040415. Epub 2009 Jan 21.

21.

Vasopressin regulation of inner medullary collecting ducts and compensatory changes in mice lacking adenosine A1 receptors.

Rieg T, Pothula K, Schroth J, Satriano J, Osswald H, Schnermann J, Insel PA, Bundey RA, Vallon V.

Am J Physiol Renal Physiol. 2008 Mar;294(3):F638-44. doi: 10.1152/ajprenal.00344.2007. Epub 2008 Jan 16.

22.

Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function.

Kurth I, Thompson DA, Rüther K, Feathers KL, Chrispell JD, Schroth J, McHenry CL, Schweizer M, Skosyrski S, Gal A, Hübner CA.

Mol Cell Biol. 2007 Feb;27(4):1370-9. Epub 2006 Nov 27.

23.

Evaluation of somatostatin as a plasma tumor marker in medullary thyroid carcinoma.

Grauer A, Schroth J, Ziegler R, Raue F.

Thyroid. 1995 Aug;5(4):287-91.

PMID:
7488870
24.

[Neutralizing antibodies against salmon calcitonin. The cause of a treatment failure in Paget's disease].

Grauer A, Frank-Raue K, Schroth J, Raue F, Ziegler R.

Dtsch Med Wochenschr. 1994 Apr 8;119(14):507-10. German.

PMID:
8156882
25.

Development and validation of an assay to measure bioactivity of human calcitonin in vitro using T47D cell membranes.

Blind E, Raue F, Kienle P, Schroth J, Grauer A, Kabay A, Brügger P, Ziegler R.

Anal Biochem. 1993 Jul;212(1):91-7.

PMID:
8396366
26.

Cyclic AMP formation in rat bone and kidney cells is stimulated equally by parathyroid hormone-related protein (PTHrP) 1-34 and PTH 1-34.

Blind E, Raue F, Knappe V, Schroth J, Ziegler R.

Exp Clin Endocrinol. 1993;101(3):150-5.

PMID:
8223983
27.

A new in vitro bioassay for human calcitonin: validation and comparison to the rat hypocalcemia bioassay.

Grauer A, Raue F, Reinel HH, Schneider HG, Schroth J, Kabay A, Brügger P, Ziegler R.

Bone Miner. 1992 Apr;17(1):65-74.

PMID:
1316197
28.

Evaluation of sensitive PDN-21 (katacalcin) determination as tumor marker in medullary thyroid carcinoma.

Blind E, Raue F, Klaiber T, Zink A, Schroth J, Buhr H, Ziegler R.

J Endocrinol Invest. 1992 Feb;15(2):93-8.

PMID:
1569295

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