Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 95

1.

Interaction of melatonin and Bmal1 in the regulation of PI3K/AKT pathway components and cellular survival.

Beker MC, Caglayan B, Caglayan AB, Kelestemur T, Yalcin E, Caglayan A, Kilic U, Baykal AT, Reiter RJ, Kilic E.

Sci Rep. 2019 Dec 13;9(1):19082. doi: 10.1038/s41598-019-55663-0.

2.

Normobaric oxygen treatment improves neuronal survival functional recovery and axonal plasticity after newborn hypoxia-ischemia.

Kelestemur T, Beker MC, Caglayan AB, Caglayan B, Altunay S, Kutlu S, Kilic E.

Behav Brain Res. 2020 Feb 3;379:112338. doi: 10.1016/j.bbr.2019.112338. Epub 2019 Nov 13.

PMID:
31733311
3.

Evidence that melatonin downregulates Nedd4-1 E3 ligase and its role in cellular survival.

Yalcin E, Beker MC, Turkseven S, Caglayan B, Gurel B, Kilic U, Caglayan AB, Kalkan R, Baykal AT, Kelestemur T, Kilic E.

Toxicol Appl Pharmacol. 2019 Sep 15;379:114686. doi: 10.1016/j.taap.2019.114686. Epub 2019 Jul 17.

PMID:
31325559
4.

Acute and Post-acute Neuromodulation Induces Stroke Recovery by Promoting Survival Signaling, Neurogenesis, and Pyramidal Tract Plasticity.

Caglayan AB, Beker MC, Caglayan B, Yalcin E, Caglayan A, Yulug B, Hanoglu L, Kutlu S, Doeppner TR, Hermann DM, Kilic E.

Front Cell Neurosci. 2019 Apr 12;13:144. doi: 10.3389/fncel.2019.00144. eCollection 2019.

5.

COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration.

Caglayan AO, Gumus H, Sandford E, Kubisiak TL, Ma Q, Ozel AB, Per H, Li JZ, Shakkottai VG, Burmeister M.

Cerebellum. 2019 Jun;18(3):665-669. doi: 10.1007/s12311-019-01011-x. No abstract available.

PMID:
30847826
6.

Evaluation of trace elements associated with antioxidant enzymes in blood of primary epithelial ovarian cancer patients.

Caglayan A, Katlan DC, Tuncer ZS, Yüce K.

J Trace Elem Med Biol. 2019 Mar;52:254-262. doi: 10.1016/j.jtemb.2019.01.010. Epub 2019 Jan 16.

PMID:
30732891
7.

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).

Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Çağlayan AO, Najafi M, Stanley V, Boustany RM, Yeşil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M.

J Med Genet. 2019 May;56(5):332-339. doi: 10.1136/jmedgenet-2018-105623. Epub 2018 Nov 28.

8.

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.

9.

Assessment of oxidant-antioxidant status alterations with tumor biomarkers and reproductive system hormones in uterine MYOMAS.

Caglayan A, Katlan DC, Tuncer ZS, Yuce K, Sayal HB, Kocer-Gumusel B.

Eur J Obstet Gynecol Reprod Biol. 2018 Oct;229:1-7. doi: 10.1016/j.ejogrb.2018.07.031. Epub 2018 Aug 1.

PMID:
30096463
10.

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.

Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG.

Nat Genet. 2018 Aug;50(8):1093-1101. doi: 10.1038/s41588-018-0166-0. Epub 2018 Jul 16.

11.

Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families.

Kocoglu C, Gundogdu A, Kocaman G, Kahraman-Koytak P, Uluc K, Kiziltan G, Caglayan AO, Bilguvar K, Vural A, Basak AN.

Neurol Genet. 2018 Jan 18;4(1):e218. doi: 10.1212/NXG.0000000000000218. eCollection 2018 Feb. No abstract available.

12.

Impaired antioxidant enzyme functions with increased lipid peroxidation in epithelial ovarian cancer.

Caglayan A, Katlan DC, Selçuk Tuncer Z, Yüce K, Sayal HB, Coşkun Salman M, Kocer-Gumusel B.

IUBMB Life. 2017 Oct;69(10):802-813. doi: 10.1002/iub.1675. Epub 2017 Sep 8.

13.

Evidence that activation of P2X7R does not exacerbate neuronal death after optic nerve transection and focal cerebral ischemia in mice.

Caglayan B, Caglayan AB, Beker MC, Yalcin E, Beker M, Kelestemur T, Sertel E, Ozturk G, Kilic U, Sahin F, Kilic E.

Exp Neurol. 2017 Oct;296:23-31. doi: 10.1016/j.expneurol.2017.06.024. Epub 2017 Jun 29.

PMID:
28669743
14.

ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.

Çağlayan AO, Sezer RG, Kaymakçalan H, Ulgen E, Yavuz T, Baranoski JF, Bozaykut A, Harmanci AS, Yalcin Y, Youngblood MW, Yasuno K, Bilgüvar K, Gunel M.

Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5). pii: a001859. doi: 10.1101/mcs.a001859. Print 2017 Sep.

15.

Poloxamer P85 increases anticancer activity of Schiff base against prostate cancer in vitro and in vivo.

Demirci S, Doğan A, Başak Türkmen N, Telci D, Çağlayan AB, Beker MÇ, Kiliç E, Özkan F, Dede B, Şahin F.

Anticancer Drugs. 2017 Sep;28(8):869-879. doi: 10.1097/CAD.0000000000000528.

PMID:
28614092
16.

Time-of-Day Dependent Neuronal Injury After Ischemic Stroke: Implication of Circadian Clock Transcriptional Factor Bmal1 and Survival Kinase AKT.

Beker MC, Caglayan B, Yalcin E, Caglayan AB, Turkseven S, Gurel B, Kelestemur T, Sertel E, Sahin Z, Kutlu S, Kilic U, Baykal AT, Kilic E.

Mol Neurobiol. 2018 Mar;55(3):2565-2576. doi: 10.1007/s12035-017-0524-4. Epub 2017 Apr 18.

PMID:
28421530
17.

Particular phosphorylation of PI3K/Akt on Thr308 via PDK-1 and PTEN mediates melatonin's neuroprotective activity after focal cerebral ischemia in mice.

Kilic U, Caglayan AB, Beker MC, Gunal MY, Caglayan B, Yalcin E, Kelestemur T, Gundogdu RZ, Yulug B, Yılmaz B, Kerman BE, Kilic E.

Redox Biol. 2017 Aug;12:657-665. doi: 10.1016/j.redox.2017.04.006. Epub 2017 Apr 5.

18.

Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly.

Sgourdou P, Mishra-Gorur K, Saotome I, Henagariu O, Tuysuz B, Campos C, Ishigame K, Giannikou K, Quon JL, Sestan N, Caglayan AO, Gunel M, Louvi A.

Sci Rep. 2017 Mar 8;7:43708. doi: 10.1038/srep43708.

19.

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.

Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG.

Nat Genet. 2017 Mar;49(3):457-464. doi: 10.1038/ng.3762. Epub 2017 Jan 16.

20.

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.

Tărlungeanu DC, Deliu E, Dotter CP, Kara M, Janiesch PC, Scalise M, Galluccio M, Tesulov M, Morelli E, Sonmez FM, Bilguvar K, Ohgaki R, Kanai Y, Johansen A, Esharif S, Ben-Omran T, Topcu M, Schlessinger A, Indiveri C, Duncan KE, Caglayan AO, Gunel M, Gleeson JG, Novarino G.

Cell. 2016 Dec 1;167(6):1481-1494.e18. doi: 10.1016/j.cell.2016.11.013.

21.

The effects of fenvalerate on hepatic and cerebral xenobiotic metabolizing enzymes in selenium and/or iodine deficient rats.

Caglayan A, Kocer-Gumusel B, Erkekoglu P, Hincal F.

Iran J Basic Med Sci. 2016 Oct;19(10):1040-1048.

22.

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.

Jerber J, Zaki MS, Al-Aama JY, Rosti RO, Ben-Omran T, Dikoglu E, Silhavy JL, Caglar C, Musaev D, Albrecht B, Campbell KP, Willer T, Almuriekhi M, Çağlayan AO, Vajsar J, Bilgüvar K, Ogur G, Abou Jamra R, Günel M, Gleeson JG.

Am J Hum Genet. 2016 Nov 3;99(5):1181-1189. doi: 10.1016/j.ajhg.2016.09.007. Epub 2016 Oct 20.

23.

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.

Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Çağlayan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R.

Am J Hum Genet. 2016 Oct 6;99(4):912-916. doi: 10.1016/j.ajhg.2016.07.019. Epub 2016 Sep 8.

24.

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.

Li H, Bielas SL, Zaki MS, Ismail S, Farfara D, Um K, Rosti RO, Scott EC, Tu S, Chi NC, Gabriel S, Erson-Omay EZ, Ercan-Sencicek AG, Yasuno K, Çağlayan AO, Kaymakçalan H, Ekici B, Bilguvar K, Gunel M, Gleeson JG.

Am J Hum Genet. 2016 Aug 4;99(2):501-10. doi: 10.1016/j.ajhg.2016.07.004. Epub 2016 Jul 21.

25.

Schiff Base-Poloxamer P85 Combination Prevents Prostate Cancer Progression in C57/Bl6 Mice.

Doğan A, Demirci S, Türkmen NB, Çağlayan AB, Aydın S, Telci D, Kılıç E, Şahin K, Orhan C, Tuzcu M, Ekici AI, Şahin F.

Prostate. 2016 Nov;76(15):1454-63. doi: 10.1002/pros.23229. Epub 2016 Jun 24.

PMID:
27338565
26.

Lithium-induced neuroprotection in stroke involves increased miR-124 expression, reduced RE1-silencing transcription factor abundance and decreased protein deubiquitination by GSK3β inhibition-independent pathways.

Doeppner TR, Kaltwasser B, Sanchez-Mendoza EH, Caglayan AB, Bähr M, Hermann DM.

J Cereb Blood Flow Metab. 2017 Mar;37(3):914-926. doi: 10.1177/0271678X16647738. Epub 2016 Jul 21. Erratum in: J Cereb Blood Flow Metab. 2018 Oct;38(10):1850.

27.

Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population.

Kornilov SA, Rakhlin N, Koposov R, Lee M, Yrigollen C, Caglayan AO, Magnuson JS, Mane S, Chang JT, Grigorenko EL.

Pediatrics. 2016 Apr;137(4). pii: e20152469. doi: 10.1542/peds.2015-2469. Epub 2016 Mar 25.

28.

Time dependent impact of perinatal hypoxia on growth hormone, insulin-like growth factor 1 and insulin-like growth factor binding protein-3.

Kartal Ö, Aydınöz S, Kartal AT, Kelestemur T, Caglayan AB, Beker MC, Karademir F, Süleymanoğlu S, Kul M, Yulug B, Kilic E.

Metab Brain Dis. 2016 Aug;31(4):827-35. doi: 10.1007/s11011-016-9816-z. Epub 2016 Mar 4.

PMID:
26943480
29.

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP.

Çağlayan AO, Tüysüz B, Coşkun S, Quon J, Harmancı AS, Baranoski JF, Baran B, Erson-Omay EZ, Henegariu O, Mane SM, Bilgüvar K, Yasuno K, Günel M.

J Hum Genet. 2016 May;61(5):395-403. doi: 10.1038/jhg.2015.160. Epub 2016 Jan 7.

30.

Targeting different pathophysiological events after traumatic brain injury in mice: Role of melatonin and memantine.

Kelestemur T, Yulug B, Caglayan AB, Beker MC, Kilic U, Caglayan B, Yalcin E, Gundogdu RZ, Kilic E.

Neurosci Lett. 2016 Jan 26;612:92-97. doi: 10.1016/j.neulet.2015.11.043. Epub 2015 Nov 27.

PMID:
26639427
31.

Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy.

Per H, Canpolat M, Bayram AK, Ulgen E, Baran B, Kardas F, Gumus H, Kumandas S, Bilguvar K, Çağlayan AO.

Neuropediatrics. 2015 Dec;46(6):420-3. doi: 10.1055/s-0035-1565275. Epub 2015 Oct 19.

PMID:
26479764
32.

The ameliorating effects of vitamin E on hepatic antioxidant system and xenobiotic-metabolizing enzymes in fenvalerate-exposed iodine-deficient rats.

Kocer-Gumusel B, Erkekoglu P, Caglayan A, Hincal F.

Drug Chem Toxicol. 2016;39(3):264-71. doi: 10.3109/01480545.2015.1092041. Epub 2015 Oct 8.

PMID:
26446907
33.

Effects of normobaric oxygen and melatonin on reperfusion injury: role of cerebral microcirculation.

Beker MC, Caglayan AB, Kelestemur T, Caglayan B, Yalcin E, Yulug B, Kilic U, Hermann DM, Kilic E.

Oncotarget. 2015 Oct 13;6(31):30604-14. doi: 10.18632/oncotarget.5773.

34.

Sustained neurological recovery induced by resveratrol is associated with angioneurogenesis rather than neuroprotection after focal cerebral ischemia.

Hermann DM, Zechariah A, Kaltwasser B, Bosche B, Caglayan AB, Kilic E, Doeppner TR.

Neurobiol Dis. 2015 Nov;83:16-25. doi: 10.1016/j.nbd.2015.08.018. Epub 2015 Aug 24.

PMID:
26316359
35.

The Effects of Ketogenic Diet on Seizures, Cognitive Functions, and Other Neurological Disorders in Classical Phenotype of Glucose Transporter 1 Deficiency Syndrome.

Gumus H, Bayram AK, Kardas F, Canpolat M, Çağlayan AO, Kumandas S, Kendirci M, Per H.

Neuropediatrics. 2015 Oct;46(5):313-20. doi: 10.1055/s-0035-1558435. Epub 2015 Aug 12.

PMID:
26267703
36.

A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon.

Kaçar Bayram A, Per H, Quon J, Canpolat M, Ülgen E, Doğan H, Gumus H, Kumandas S, Bayram N, Bilguvar K, Çağlayan AO.

Eur J Paediatr Neurol. 2015 Nov;19(6):743-6. doi: 10.1016/j.ejpn.2015.06.003. Epub 2015 Jul 9.

PMID:
26190014
37.

Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis.

Erson-Omay EZ, Çağlayan AO, Schultz N, Weinhold N, Omay SB, Özduman K, Köksal Y, Li J, Serin Harmancı A, Clark V, Carrión-Grant G, Baranoski J, Çağlar C, Barak T, Coşkun S, Baran B, Köse D, Sun J, Bakırcıoğlu M, Moliterno Günel J, Pamir MN, Mishra-Gorur K, Bilguvar K, Yasuno K, Vortmeyer A, Huttner AJ, Sander C, Günel M.

Neuro Oncol. 2015 Oct;17(10):1356-64. doi: 10.1093/neuonc/nov027. Epub 2015 Mar 3.

38.

HMG-CoA Reductase Inhibition Promotes Neurological Recovery, Peri-Lesional Tissue Remodeling, and Contralesional Pyramidal Tract Plasticity after Focal Cerebral Ischemia.

Kilic E, Reitmeir R, Kilic Ü, Caglayan AB, Beker MC, Kelestemur T, Ethemoglu MS, Ozturk G, Hermann DM.

Front Cell Neurosci. 2014 Dec 11;8:422. doi: 10.3389/fncel.2014.00422. eCollection 2014.

39.

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.

40.

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.

41.

Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.

Caglayan AO, Baranoski JF, Aktar F, Han W, Tuysuz B, Guzel A, Guclu B, Kaymakcalan H, Aktekin B, Akgumus GT, Murray PB, Erson-Omay EZ, Caglar C, Bakircioglu M, Sakalar YB, Guzel E, Demir N, Tuncer O, Senturk S, Ekici B, Minja FJ, Šestan N, Yasuno K, Bilguvar K, Caksen H, Gunel M.

Pediatr Neurol. 2014 Dec;51(6):806-813.e8. doi: 10.1016/j.pediatrneurol.2014.08.025. Epub 2014 Sep 4. Review.

42.

HMG-CoA reductase inhibitor rosuvastatin improves abnormal brain electrical activity via mechanisms involving eNOS.

Seker FB, Kilic U, Caglayan B, Ethemoglu MS, Caglayan AB, Ekimci N, Demirci S, Dogan A, Oztezcan S, Sahin F, Yilmaz B, Kilic E.

Neuroscience. 2015 Jan 22;284:349-59. doi: 10.1016/j.neuroscience.2014.10.014. Epub 2014 Oct 19.

PMID:
25453767
43.

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.

Caglayan AO, Comu S, Baranoski JF, Parman Y, Kaymakçalan H, Akgumus GT, Caglar C, Dolen D, Erson-Omay EZ, Harmanci AS, Mishra-Gorur K, Freeze HH, Yasuno K, Bilguvar K, Gunel M.

Eur J Med Genet. 2015 Jan;58(1):39-43. doi: 10.1016/j.ejmg.2014.08.008. Epub 2014 Sep 9.

44.

Sodium pentaborate pentahydrate and pluronic containing hydrogel increases cutaneous wound healing in vitro and in vivo.

Doğan A, Demirci S, Cağlayan AB, Kılıç E, Günal MY, Uslu U, Cumbul A, Sahin F.

Biol Trace Elem Res. 2014 Dec;162(1-3):72-9. doi: 10.1007/s12011-014-0104-7. Epub 2014 Aug 17.

PMID:
25129136
45.

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.

Schaffer AE, Eggens VR, Caglayan AO, Reuter MS, Scott E, Coufal NG, Silhavy JL, Xue Y, Kayserili H, Yasuno K, Rosti RO, Abdellateef M, Caglar C, Kasher PR, Cazemier JL, Weterman MA, Cantagrel V, Cai N, Zweier C, Altunoglu U, Satkin NB, Aktar F, Tuysuz B, Yalcinkaya C, Caksen H, Bilguvar K, Fu XD, Trotta CR, Gabriel S, Reis A, Gunel M, Baas F, Gleeson JG.

Cell. 2014 Apr 24;157(3):651-63. doi: 10.1016/j.cell.2014.03.049.

46.

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.

47.

A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?

Degerliyurt A, Akgumus G, Caglar C, Bilguvar K, Caglayan AO.

Genet Couns. 2013;24(3):283-9.

PMID:
24341143
48.

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.

Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Sestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, Gleeson JG.

Am J Hum Genet. 2013 Mar 7;92(3):468-74. doi: 10.1016/j.ajhg.2013.02.005.

49.

Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration.

Bilguvar K, Tyagi NK, Ozkara C, Tuysuz B, Bakircioglu M, Choi M, Delil S, Caglayan AO, Baranoski JF, Erturk O, Yalcinkaya C, Karacorlu M, Dincer A, Johnson MH, Mane S, Chandra SS, Louvi A, Boggon TJ, Lifton RP, Horwich AL, Gunel M.

Proc Natl Acad Sci U S A. 2013 Feb 26;110(9):3489-94. doi: 10.1073/pnas.1222732110. Epub 2013 Jan 28.

50.

Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO.

Clark VE, Erson-Omay EZ, Serin A, Yin J, Cotney J, Ozduman K, Avşar T, Li J, Murray PB, Henegariu O, Yilmaz S, Günel JM, Carrión-Grant G, Yilmaz B, Grady C, Tanrikulu B, Bakircioğlu M, Kaymakçalan H, Caglayan AO, Sencar L, Ceyhun E, Atik AF, Bayri Y, Bai H, Kolb LE, Hebert RM, Omay SB, Mishra-Gorur K, Choi M, Overton JD, Holland EC, Mane S, State MW, Bilgüvar K, Baehring JM, Gutin PH, Piepmeier JM, Vortmeyer A, Brennan CW, Pamir MN, Kiliç T, Lifton RP, Noonan JP, Yasuno K, Günel M.

Science. 2013 Mar 1;339(6123):1077-80. doi: 10.1126/science.1233009. Epub 2013 Jan 24.

Supplemental Content

Loading ...
Support Center