Li J - Search Results

1

TMTC4 is a hair cell-specific human deafness gene.

Li J, Choi BY, Eltawil Y, Ismail Mohamad N, Park Y, Matthews IR, Han JH, Kim BJ, Sherr EH, Chan DK. Li J, et al. JCI Insight. 2023 Dec 22;8(24):e172665. doi: 10.1172/jci.insight.172665. JCI Insight. 2023. PMID: 37943620 Free PMC article.

2

Deletion of Tmtc4 activates the unfolded protein response and causes postnatal hearing loss.

Li J, Akil O, Rouse SL, McLaughlin CW, Matthews IR, Lustig LR, Chan DK, Sherr EH. Li J, et al. J Clin Invest. 2018 Nov 1;128(11):5150-5162. doi: 10.1172/JCI97498. Epub 2018 Oct 15. J Clin Invest. 2018. PMID: 30188326 Free PMC article.

3

Integrated stress response inhibition provides sex-dependent protection against noise-induced cochlear synaptopathy.

Rouse SL, Matthews IR, Li J, Sherr EH, Chan DK. Rouse SL, et al. Among authors: li j. Sci Rep. 2020 Oct 22;10(1):18063. doi: 10.1038/s41598-020-75058-w. Sci Rep. 2020. PMID: 33093490 Free PMC article.

4

Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome.

Li J, Shivakumar S, Wakahiro M, Mukherjee P, Barkovich AJ, Slavotinek A, Sherr EH. Li J, et al. Am J Med Genet A. 2007 Aug 15;143A(16):1900-5. doi: 10.1002/ajmg.a.31855. Am J Med Genet A. 2007. PMID: 17632789

5

Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.

Osbun N, Li J, O'Driscoll MC, Strominger Z, Wakahiro M, Rider E, Bukshpun P, Boland E, Spurrell CH, Schackwitz W, Pennacchio LA, Dobyns WB, Black GC, Sherr EH. Osbun N, et al. Among authors: li j. Am J Med Genet A. 2011 Aug;155A(8):1865-76. doi: 10.1002/ajmg.a.34081. Epub 2011 Jul 7. Am J Med Genet A. 2011. PMID: 21739582 Free PMC article.

6

Quantitative trait loci for interhemispheric commissure development and social behaviors in the BTBR T⁺ tf/J mouse model of autism.

Jones-Davis DM, Yang M, Rider E, Osbun NC, da Gente GJ, Li J, Katz AM, Weber MD, Sen S, Crawley J, Sherr EH. Jones-Davis DM, et al. Among authors: li j. PLoS One. 2013 Apr 15;8(4):e61829. doi: 10.1371/journal.pone.0061829. Print 2013. PLoS One. 2013. PMID: 23613947 Free PMC article.

7

Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.

Jimenez NL, Flannick J, Yahyavi M, Li J, Bardakjian T, Tonkin L, Schneider A, Sherr EH, Slavotinek AM. Jimenez NL, et al. Among authors: li j. BMC Med Genet. 2011 Dec 28;12:172. doi: 10.1186/1471-2350-12-172. BMC Med Genet. 2011. PMID: 22204637 Free PMC article.

8

Mapk/Erk activation in an animal model of social deficits shows a possible link to autism.

Faridar A, Jones-Davis D, Rider E, Li J, Gobius I, Morcom L, Richards LJ, Sen S, Sherr EH. Faridar A, et al. Among authors: li j. Mol Autism. 2014 Dec 22;5:57. doi: 10.1186/2040-2392-5-57. eCollection 2014. Mol Autism. 2014. PMID: 25874073 Free PMC article.

9

Arginine vasopressin in cerebrospinal fluid is a marker of sociality in nonhuman primates.

Parker KJ, Garner JP, Oztan O, Tarara ER, Li J, Sclafani V, Del Rosso LA, Chun K, Berquist SW, Chez MG, Partap S, Hardan AY, Sherr EH, Capitanio JP. Parker KJ, et al. Among authors: li j. Sci Transl Med. 2018 May 2;10(439):eaam9100. doi: 10.1126/scitranslmed.aam9100. Sci Transl Med. 2018. PMID: 29720452 Free PMC article.

10

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.

Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, Conlin LK, Horton MA, Zackai EH, Sherr EH, Gleeson JG. Akizu N, et al. Among authors: li j. Am J Hum Genet. 2013 Mar 7;92(3):392-400. doi: 10.1016/j.ajhg.2013.02.004. Epub 2013 Feb 28. Am J Hum Genet. 2013. PMID: 23453666 Free PMC article.

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