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Items: 1 to 20 of 124

1.

GABAA receptor, KATP channel and L-type Ca2+ channel is associated with facilitation effect of H2S on the baroreceptor reflex in spontaneous hypertensive rats.

Teng X, Li H, Xue H, Jin S, Xiao L, Guo Q, Wu Y.

Pharmacol Rep. 2019 May 15;71(5):968-975. doi: 10.1016/j.pharep.2019.05.009. [Epub ahead of print]

PMID:
31470293
2.

Molecular and clinical analysis of Chinese patients with ALK-rearranged non-small cell lung cancer.

Zhou X, Shou J, Sheng J, Xu C, Ren S, Cai X, Chu Q, Wang W, Zhen Q, Zhou Y, Li W, Pan H, Li H, Sun T, Cheng H, Wang H, Lou F, Rao C, Cao S, Pan H, Fang Y.

Cancer Sci. 2019 Aug 23. doi: 10.1111/cas.14177. [Epub ahead of print]

3.

SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus.

Jin SC, Furey CG, Zeng X, Allocco A, Nelson-Williams C, Dong W, Karimy JK, Wang K, Ma S, Delpire E, Kahle KT.

Mol Genet Genomic Med. 2019 Sep;7(9):e892. doi: 10.1002/mgg3.892. Epub 2019 Aug 8.

4.

Speeding behavior and speed limits for heterogeneous bicycle flow.

Xu C, Guo H, Xu L, Jin S.

Traffic Inj Prev. 2019 Aug 5:1-5. doi: 10.1080/15389588.2019.1642471. [Epub ahead of print]

PMID:
31381427
5.

Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis.

Timberlake AT, Jin SC, Nelson-Williams C, Wu R, Furey CG, Islam B, Haider S, Loring E, Galm A; Yale Center for Genome Analysis, Steinbacher DM, Larysz D, Staffenberg DA, Flores RL, Rodriguez ED, Boggon TJ, Persing JA, Lifton RP.

Proc Natl Acad Sci U S A. 2019 Jul 23;116(30):15116-15121. doi: 10.1073/pnas.1902041116. Epub 2019 Jul 10. Erratum in: Proc Natl Acad Sci U S A. 2019 Aug 20;116(34):17130.

6.

Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility.

Robson A, Makova SZ, Barish S, Zaidi S, Mehta S, Drozd J, Jin SC, Gelb BD, Seidman CE, Chung WK, Lifton RP, Khokha MK, Brueckner M.

Proc Natl Acad Sci U S A. 2019 Jul 9;116(28):14049-14054. doi: 10.1073/pnas.1808341116. Epub 2019 Jun 24.

PMID:
31235600
7.

Hydrogen sulfide improves endothelial dysfunction by inhibiting the vicious cycle of NLRP3 inflammasome and oxidative stress in spontaneously hypertensive rats.

Li J, Teng X, Jin S, Dong J, Guo Q, Tian D, Wu Y.

J Hypertens. 2019 Aug;37(8):1633-1643. doi: 10.1097/HJH.0000000000002101.

PMID:
31058793
8.

Unique features in the intracellular transport of typhoid toxin revealed by a genome-wide screen.

Chang SJ, Jin SC, Jiao X, Galán JE.

PLoS Pathog. 2019 Apr 5;15(4):e1007704. doi: 10.1371/journal.ppat.1007704. eCollection 2019 Apr.

9.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC.

Am J Hum Genet. 2019 Mar 7;104(3):562. doi: 10.1016/j.ajhg.2019.02.015. No abstract available.

10.

EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease.

Zeng X, Hunt A, Jin SC, Duran D, Gaillard J, Kahle KT.

Trends Mol Med. 2019 Apr;25(4):265-286. doi: 10.1016/j.molmed.2019.01.009. Epub 2019 Feb 25. Review.

PMID:
30819650
11.

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.

Duran D, Zeng X, Jin SC, Choi J, Nelson-Williams C, Yatsula B, Gaillard J, Furey CG, Lu Q, Timberlake AT, Dong W, Sorscher MA, Loring E, Klein J, Allocco A, Hunt A, Conine S, Karimy JK, Youngblood MW, Zhang J, DiLuna ML, Matouk CC, Mane S, Tikhonova IR, Castaldi C, López-Giráldez F, Knight J, Haider S, Soban M, Alper SL, Komiyama M, Ducruet AF, Zabramski JM, Dardik A, Walcott BP, Stapleton CJ, Aagaard-Kienitz B, Rodesch G, Jackson E, Smith ER, Orbach DB, Berenstein A, Bilguvar K, Vikkula M, Gunel M, Lifton RP, Kahle KT.

Neuron. 2019 Feb 6;101(3):429-443.e4. doi: 10.1016/j.neuron.2018.11.041. Epub 2018 Dec 18.

PMID:
30578106
12.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC.

Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Erratum in: Am J Hum Genet. 2019 Mar 7;104(3):562.

13.

Alpha-lipoic acid regulates the autophagy of vascular smooth muscle cells in diabetes by elevating hydrogen sulfide level.

Qiu X, Liu K, Xiao L, Jin S, Dong J, Teng X, Guo Q, Chen Y, Wu Y.

Biochim Biophys Acta Mol Basis Dis. 2018 Nov;1864(11):3723-3738. doi: 10.1016/j.bbadis.2018.09.005. Epub 2018 Sep 7.

PMID:
30251691
14.

Human Genetics and Molecular Mechanisms of Congenital Hydrocephalus.

Furey CG, Zeng X, Dong W, Jin SC, Choi J, Timberlake AT, Dunbar AM, Allocco AA, Günel M, Lifton RP, Kahle KT.

World Neurosurg. 2018 Nov;119:441-443. doi: 10.1016/j.wneu.2018.09.018. Epub 2018 Sep 8. No abstract available.

PMID:
30205212
15.

Hydrogen Sulfide Alleviates Acute Myocardial Ischemia Injury by Modulating Autophagy and Inflammation Response under Oxidative Stress.

Bai YD, Yang YR, Mu XP, Lin G, Wang YP, Jin S, Chen Y, Wang MJ, Zhu YC.

Oxid Med Cell Longev. 2018 Aug 1;2018:3402809. doi: 10.1155/2018/3402809. eCollection 2018.

16.

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.

Furey CG, Choi J, Jin SC, Zeng X, Timberlake AT, Nelson-Williams C, Mansuri MS, Lu Q, Duran D, Panchagnula S, Allocco A, Karimy JK, Khanna A, Gaillard JR, DeSpenza T, Antwi P, Loring E, Butler WE, Smith ER, Warf BC, Strahle JM, Limbrick DD, Storm PB, Heuer G, Jackson EM, Iskandar BJ, Johnston JM, Tikhonova I, Castaldi C, López-Giráldez F, Bjornson RD, Knight JR, Bilguvar K, Mane S, Alper SL, Haider S, Guclu B, Bayri Y, Sahin Y, Apuzzo MLJ, Duncan CC, DiLuna ML, Günel M, Lifton RP, Kahle KT.

Neuron. 2018 Jul 25;99(2):302-314.e4. doi: 10.1016/j.neuron.2018.06.019. Epub 2018 Jul 5.

17.

De novo MYH9 mutation in congenital scalp hemangioma.

Fomchenko EI, Duran D, Jin SC, Dong W, Erson-Omay EZ, Antwi P, Allocco A, Gaillard JR, Huttner A, Gunel M, DiLuna ML, Kahle KT.

Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4). pii: a002998. doi: 10.1101/mcs.a002998. Print 2018 Aug.

18.

A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9.

Antwi P, Hong CS, Duran D, Jin SC, Dong W, DiLuna M, Kahle KT.

Cold Spring Harb Mol Case Stud. 2018 Jun 1;4(3). pii: a002766. doi: 10.1101/mcs.a002766. Print 2018 Jun.

19.

Chinese Medicine in Treatment of A Patient with Acute Extensive Anterior Myocardial Infarction Complicated by Shock after Percutaneous Coronary Intervention.

Li SB, Sheng J, Zhou Q, Xing WL, Liu HX, Liu WX.

Chin J Integr Med. 2019 May;25(5):366-369. doi: 10.1007/s11655-018-2558-5. Epub 2018 Mar 23. No abstract available.

PMID:
29651673
20.

Hydrogen Sulfide Attenuates LPS-Induced Acute Kidney Injury by Inhibiting Inflammation and Oxidative Stress.

Chen Y, Jin S, Teng X, Hu Z, Zhang Z, Qiu X, Tian D, Wu Y.

Oxid Med Cell Longev. 2018 Jan 31;2018:6717212. doi: 10.1155/2018/6717212. eCollection 2018.

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