PubMed (OMIM) for id: 3035

Year	Number of Results
1983	1
1985	2
1986	1
1995	2
2002	1
2012	2
2013	1
2014	1
2015	1
2024	0

1

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Safka Brozkova D, Deconinck T, Griffin LB, Ferbert A, Haberlova J, Mazanec R, Lassuthova P, Roth C, Pilunthanakul T, Rautenstrauss B, Janecke AR, Zavadakova P, Chrast R, Rivolta C, Zuchner S, Antonellis A, Beg AA, De Jonghe P, Senderek J, Seeman P, Baets J. Safka Brozkova D, et al. Brain. 2015 Aug;138(Pt 8):2161-72. doi: 10.1093/brain/awv158. Epub 2015 Jun 13. Brain. 2015. PMID: 26072516 Free PMC article.

2

Human tRNA synthetase catalytic nulls with diverse functions.

Lo WS, Gardiner E, Xu Z, Lau CF, Wang F, Zhou JJ, Mendlein JD, Nangle LA, Chiang KP, Yang XL, Au KF, Wong WH, Guo M, Zhang M, Schimmel P. Lo WS, et al. Science. 2014 Jul 18;345(6194):328-32. doi: 10.1126/science.1252943. Science. 2014. PMID: 25035493 Free PMC article.

3

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.

Vester A, Velez-Ruiz G, McLaughlin HM; NISC Comparative Sequencing Program; Lupski JR, Talbot K, Vance JM, Züchner S, Roda RH, Fischbeck KH, Biesecker LG, Nicholson G, Beg AA, Antonellis A. Vester A, et al. Hum Mutat. 2013 Jan;34(1):191-9. doi: 10.1002/humu.22210. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22930593 Free PMC article.

4

Genetic mapping and exome sequencing identify variants associated with five novel diseases.

Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA. Puffenberger EG, et al. PLoS One. 2012;7(1):e28936. doi: 10.1371/journal.pone.0028936. Epub 2012 Jan 17. PLoS One. 2012. PMID: 22279524 Free PMC article.

5

Genomic organization, transcriptional mapping, and evolutionary implications of the human bi-directional histidyl-tRNA synthetase locus (HARS/HARSL).

O'Hanlon TP, Miller FW. O'Hanlon TP, et al. Biochem Biophys Res Commun. 2002 Jun 14;294(3):609-14. doi: 10.1016/S0006-291X(02)00525-9. Biochem Biophys Res Commun. 2002. PMID: 12056811

6

The ophthalmological course of Usher syndrome type III.

Pakarinen L, Tuppurainen K, Laippala P, Mäntyjärvi M, Puhakka H. Pakarinen L, et al. Int Ophthalmol. 1995-1996;19(5):307-11. doi: 10.1007/BF00130927. Int Ophthalmol. 1995. PMID: 8864816

7

A novel gene oriented in a head-to-head configuration with the human histidyl-tRNA synthetase (HRS) gene encodes an mRNA that predicts a polypeptide homologous to HRS.

O'Hanlon TP, Raben N, Miller FW. O'Hanlon TP, et al. Biochem Biophys Res Commun. 1995 May 16;210(2):556-66. doi: 10.1006/bbrc.1995.1696. Biochem Biophys Res Commun. 1995. PMID: 7755634

8

An unusual otological manifestation of Usher's syndrome in four siblings.

Karjalainen S, Teräsvirta M, Kärjä J, Kääriäinen H. Karjalainen S, et al. Clin Genet. 1983 Oct;24(4):273-9. doi: 10.1111/j.1399-0004.1983.tb00082.x. Clin Genet. 1983. PMID: 6641004

9

Chromosomal localization of human gene for histidyl-tRNA synthetase: clustering of genes encoding aminoacyl-tRNA synthetases on human chromosome 5.

Wasmuth JJ, Carlock LR. Wasmuth JJ, et al. Somat Cell Mol Genet. 1986 Sep;12(5):513-7. doi: 10.1007/BF01539922. Somat Cell Mol Genet. 1986. PMID: 3464104

10

Deletion mapping of human chromosome 5 using chromosome-specific DNA probes.

Carlock LR, Skarecky D, Dana SL, Wasmuth JJ. Carlock LR, et al. Am J Hum Genet. 1985 Sep;37(5):839-52. Am J Hum Genet. 1985. PMID: 2996334 Free PMC article.

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