Kan SH - Search Results

1

Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery.

Furniss D, Kan SH, Taylor IB, Johnson D, Critchley PS, Giele HP, Wilkie AO. Furniss D, et al. Among authors: kan sh. J Med Genet. 2009 Nov;46(11):730-5. doi: 10.1136/jmg.2009.066027. Epub 2009 May 7. J Med Genet. 2009. PMID: 19429598 Free PMC article.

2

6 Clinical genetics of syn- and brachydactyly: mutations in FGFR2 and HOXD13.

Wilkie A, Kan SH, Johnson D, Giele H. Wilkie A, et al. Among authors: kan sh. J Anat. 2002 Nov;201(5):418. J Anat. 2002. PMID: 17103748 Free PMC article. English. No abstract available.

3

Combining angiotensin receptor blockade and enzyme replacement therapy for vascular disease in mucopolysaccharidosis type I.

Hurt SC, Vera MU, Le SQ, Kan SH, Bui Q, Dickson PI. Hurt SC, et al. Among authors: kan sh. Mol Genet Metab Rep. 2023 Dec 14;38:101036. doi: 10.1016/j.ymgmr.2023.101036. eCollection 2024 Mar. Mol Genet Metab Rep. 2023. PMID: 38173710 Free PMC article.

4

Base editing corrects the common Salla disease SLC17A5 c.115C>T variant.

Harb JF, Christensen CL, Kan SH, Rha AK, Andrade-Heckman P, Pollard L, Steet R, Huang JY, Wang RY. Harb JF, et al. Among authors: kan sh. Mol Ther Nucleic Acids. 2023 Aug 26;34:102022. doi: 10.1016/j.omtn.2023.08.024. eCollection 2023 Dec 12. Mol Ther Nucleic Acids. 2023. PMID: 37727271 Free PMC article.

5

Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene.

Christensen C, Heckman P, Rha A, Kan SH, Harb J, Wang R. Christensen C, et al. Among authors: kan sh. Stem Cell Res. 2023 Jun;69:103117. doi: 10.1016/j.scr.2023.103117. Epub 2023 May 6. Stem Cell Res. 2023. PMID: 37167752 Free PMC article.

6

CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease.

Kan SH, Huang JY, Harb J, Rha A, Dalton ND, Christensen C, Chan Y, Davis-Turak J, Neumann J, Wang RY. Kan SH, et al. Sci Rep. 2022 Dec 14;12(1):21576. doi: 10.1038/s41598-022-25914-8. Sci Rep. 2022. PMID: 36517654 Free PMC article.

7

Brain transplantation of genetically corrected Sanfilippo type B neural stem cells induces partial cross-correction of the disease.

Pearse Y, Clarke D, Kan SH, Le SQ, Sanghez V, Luzzi A, Pham I, Nih LR, Cooper JD, Dickson PI, Iacovino M. Pearse Y, et al. Among authors: kan sh. Mol Ther Methods Clin Dev. 2022 Oct 27;27:452-463. doi: 10.1016/j.omtm.2022.10.013. eCollection 2022 Dec 8. Mol Ther Methods Clin Dev. 2022. PMID: 36419468 Free PMC article.

8

Impaired mitophagy in Sanfilippo a mice causes hypertriglyceridemia and brown adipose tissue activation.

Tillo M, Lamanna WC, Dwyer CA, Sandoval DR, Pessentheiner AR, Al-Azzam N, Sarrazin S, Gonzales JC, Kan SH, Andreyev AY, Schultheis N, Thacker BE, Glass CA, Dickson PI, Wang RY, Selleck SB, Esko JD, Gordts PLSM. Tillo M, et al. Among authors: kan sh. J Biol Chem. 2022 Aug;298(8):102159. doi: 10.1016/j.jbc.2022.102159. Epub 2022 Jun 22. J Biol Chem. 2022. PMID: 35750212 Free PMC article.

9

Neuropathology of murine Sanfilippo D syndrome.

Takahashi K, Le SQ, Kan SH, Jansen MJ, Dickson PI, Cooper JD. Takahashi K, et al. Among authors: kan sh. Mol Genet Metab. 2021 Dec;134(4):323-329. doi: 10.1016/j.ymgme.2021.11.010. Epub 2021 Nov 24. Mol Genet Metab. 2021. PMID: 34844863

10

Discovery of antimicrobial agent targeting tryptophan synthase.

Bosken YK, Ai R, Hilario E, Ghosh RK, Dunn MF, Kan SH, Niks D, Zhou H, Ma W, Mueller LJ, Fan L, Chang CA. Bosken YK, et al. Among authors: kan sh. Protein Sci. 2022 Feb;31(2):432-442. doi: 10.1002/pro.4236. Epub 2021 Nov 26. Protein Sci. 2022. PMID: 34767267 Free PMC article.

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