Wang H - Search Results

1

TMCO1 Is an ER Ca(2+) Load-Activated Ca(2+) Channel.

Wang QC, Zheng Q, Tan H, Zhang B, Li X, Yang Y, Yu J, Liu Y, Chai H, Wang X, Sun Z, Wang JQ, Zhu S, Wang F, Yang M, Guo C, Wang H, Zheng Q, Li Y, Chen Q, Zhou A, Tang TS. Wang QC, et al. Among authors: wang x, wang h, wang f, wang jq. Cell. 2016 Jun 2;165(6):1454-1466. doi: 10.1016/j.cell.2016.04.051. Epub 2016 May 19. Cell. 2016. PMID: 27212239 Free article.

2

Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.

Xin B, Puffenberger EG, Turben S, Tan H, Zhou A, Wang H. Xin B, et al. Among authors: wang h. Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):258-63. doi: 10.1073/pnas.0908457107. Epub 2009 Dec 14. Proc Natl Acad Sci U S A. 2010. PMID: 20018682 Free PMC article.

3

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke.

Xin B, Jones S, Puffenberger EG, Hinze C, Bright A, Tan H, Zhou A, Wu G, Vargus-Adams J, Agamanolis D, Wang H. Xin B, et al. Among authors: wang h. Proc Natl Acad Sci U S A. 2011 Mar 29;108(13):5372-7. doi: 10.1073/pnas.1014265108. Epub 2011 Mar 14. Proc Natl Acad Sci U S A. 2011. PMID: 21402907 Free PMC article.

4

A new liquid chromatography/tandem mass spectrometry method for quantification of gangliosides in human plasma.

Huang Q, Zhou X, Liu D, Xin B, Cechner K, Wang H, Zhou A. Huang Q, et al. Among authors: wang h. Anal Biochem. 2014 Jun 15;455:26-34. doi: 10.1016/j.ab.2014.03.014. Epub 2014 Mar 27. Anal Biochem. 2014. PMID: 24680754

5

Early growth and development impairments in patients with ganglioside GM3 synthase deficiency.

Wang H, Wang A, Wang D, Bright A, Sency V, Zhou A, Xin B. Wang H, et al. Among authors: wang d, wang a. Clin Genet. 2016 May;89(5):625-9. doi: 10.1111/cge.12703. Epub 2016 Jan 20. Clin Genet. 2016. PMID: 26649472

6

Quantification of monosialogangliosides in human plasma through chemical derivatization for signal enhancement in LC-ESI-MS.

Huang Q, Liu D, Xin B, Cechner K, Zhou X, Wang H, Zhou A. Huang Q, et al. Among authors: wang h. Anal Chim Acta. 2016 Jul 27;929:31-38. doi: 10.1016/j.aca.2016.04.043. Epub 2016 Apr 28. Anal Chim Acta. 2016. PMID: 27251946

7

Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency.

Wang H, Sency V, McJarrow P, Bright A, Huang Q, Cechner K, Szekely J, Brace J, Wang A, Liu D, Rowan A, Wiznitzer M, Zhou A, Xin B. Wang H, et al. Among authors: wang a. JIMD Rep. 2019;45:9-20. doi: 10.1007/8904_2018_134. Epub 2018 Sep 13. JIMD Rep. 2019. PMID: 30209782 Free PMC article.

8

From Disease Description and Gene Discovery to Functional Cell Pathway: A Decade-Long Journey for TMCO1.

Batchelor-Regan H, Xin B, Zhou A, Wang H. Batchelor-Regan H, et al. Among authors: wang h. Front Genet. 2021 May 20;12:652400. doi: 10.3389/fgene.2021.652400. eCollection 2021. Front Genet. 2021. PMID: 34093650 Free PMC article. Review.

9

Tissue-Biased Expansion of DNMT3A-Mutant Clones in a Mosaic Individual Is Associated with Conserved Epigenetic Erosion.

Tovy A, Reyes JM, Gundry MC, Brunetti L, Lee-Six H, Petljak M, Park HJ, Guzman AG, Rosas C, Jeffries AR, Baple E, Mill J, Crosby AH, Sency V, Xin B, Machado HE, Castillo D, Weitzel JN, Li W, Stratton MR, Campbell PJ, Wang H, Sanders MA, Goodell MA. Tovy A, et al. Among authors: wang h. Cell Stem Cell. 2020 Aug 6;27(2):326-335.e4. doi: 10.1016/j.stem.2020.06.018. Epub 2020 Jul 15. Cell Stem Cell. 2020. PMID: 32673568 Free PMC article.

10

Bilateral angle closure glaucoma in a 28-year-old Cohen syndrome patient.

Li A, Gandhi A, Wang H, Traboulsi EI. Li A, et al. Among authors: wang h. Ophthalmic Genet. 2018 Oct;39(5):657-658. doi: 10.1080/13816810.2018.1495746. Epub 2018 Jul 9. Ophthalmic Genet. 2018. PMID: 29985682 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

151,593 results

Search Page

Filters