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Mapping and exome sequencing identifies a mutation in the IARS gene as the cause of hereditary perinatal weak calf syndrome.

Hirano T, Kobayashi N, Matsuhashi T, Watanabe D, Watanabe T, Takasuga A, Sugimoto M, Sugimoto Y.

PLoS One. 2013 May 21;8(5):e64036. doi: 10.1371/journal.pone.0064036. Print 2013.


Mapping of Calf Death in Japanese Black Cattle.

Hirano T, Nishimura S, Hara H, Sugimoto Y, Hanzawa K.

Anim Biotechnol. 2017 Oct 2;28(4):242-247. doi: 10.1080/10495398.2016.1267643. Epub 2017 Jan 19.


IARS mutation causes prenatal death in Japanese Black cattle.

Hirano T, Matsuhashi T, Takeda K, Hara H, Kobayashi N, Kita K, Sugimoto Y, Hanzawa K.

Anim Sci J. 2016 Sep;87(9):1178-81. doi: 10.1111/asj.12639. Epub 2016 May 27.


A missense mutation in solute carrier family 12, member 1 (SLC12A1) causes hydrallantois in Japanese Black cattle.

Sasaki S, Hasegawa K, Higashi T, Suzuki Y, Sugano S, Yasuda Y, Sugimoto Y.

BMC Genomics. 2016 Sep 9;17(1):724. doi: 10.1186/s12864-016-3035-1.


Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.

Kopajtich R, Murayama K, Janecke AR, Haack TB, Breuer M, Knisely AS, Harting I, Ohashi T, Okazaki Y, Watanabe D, Tokuzawa Y, Kotzaeridou U, Kölker S, Sauer S, Carl M, Straub S, Entenmann A, Gizewski E, Feichtinger RG, Mayr JA, Lackner K, Strom TM, Meitinger T, Müller T, Ohtake A, Hoffmann GF, Prokisch H, Staufner C.

Am J Hum Genet. 2016 Aug 4;99(2):414-22. doi: 10.1016/j.ajhg.2016.05.027. Epub 2016 Jul 14.


Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.

Orenstein N, Weiss K, Oprescu SN, Shapira R, Kidron D, Vanagaite-Basel L, Antonellis A, Muenke M.

Clin Genet. 2017 Jun;91(6):913-917. doi: 10.1111/cge.12930. Epub 2017 Feb 22.


Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.

Schwartzentruber J, Buhas D, Majewski J, Sasarman F, Papillon-Cavanagh S, Thiffault I, Sheldon KM, Massicotte C, Patry L, Simon M, Zare AS, McKernan KJ; FORGE Canada Consortium, Michaud J, Boles RG, Deal CL, Desilets V, Shoubridge EA, Samuels ME.

Hum Mutat. 2014 Nov;35(11):1285-9. doi: 10.1002/humu.22629. Epub 2014 Oct 18. Erratum in: Hum Mutat. 2015 Feb;36(2):281. Thiffaut, Isabelle [corrected to Thiffault, Isabelle].


A nonsense mutation in PLD4 is associated with a zinc deficiency-like syndrome in Fleckvieh cattle.

Jung S, Pausch H, Langenmayer MC, Schwarzenbacher H, Majzoub-Altweck M, Gollnick NS, Fries R.

BMC Genomics. 2014 Jul 22;15:623. doi: 10.1186/1471-2164-15-623.


Intrauterine growth retardation as a cause of perinatal mortality in Japanese black beef calves.

Ogata Y, Nakao T, Takahashi K, Abe H, Misawa T, Urushiyama Y, Sakai J.

Zentralbl Veterinarmed A. 1999 Aug;46(6):327-34.


A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.

Akawi N, Ali B, Al Gazali L.

Birth Defects Res A Clin Mol Teratol. 2013 Jul;97(7):456-62. doi: 10.1002/bdra.23136. Epub 2013 May 20.


A miniature condition in Brahman cattle is associated with a single nucleotide mutation within the growth hormone gene.

McCormack BL, Chase CC Jr, Olson TA, Elsasser TH, Hammond AC, Welsh TH Jr, Jiang H, Randel RD, Okamura CA, Lucy MC.

Domest Anim Endocrinol. 2009 Aug;37(2):104-11. doi: 10.1016/j.domaniend.2009.04.001. Epub 2009 May 14.


Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.

Pierce SB, Gersak K, Michaelson-Cohen R, Walsh T, Lee MK, Malach D, Klevit RE, King MC, Levy-Lahad E.

Am J Hum Genet. 2013 Apr 4;92(4):614-20. doi: 10.1016/j.ajhg.2013.03.007. Epub 2013 Mar 28.


Whole-genome sequencing identifies a homozygous deletion encompassing exons 17 to 23 of the integrin beta 4 gene in a Charolais calf with junctional epidermolysis bullosa.

Michot P, Fantini O, Braque R, Allais-Bonnet A, Saintilan R, Grohs C, Barbieri J, Genestout L, Danchin-Burge C, Gourreau JM, Boichard D, Pin D, Capitan A.

Genet Sel Evol. 2015 May 3;47:37. doi: 10.1186/s12711-015-0110-z.


A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle.

Murgiano L, Jagannathan V, Piffer C, Diez-Prieto I, Bolcato M, Gentile A, Drögemüller C.

BMC Vet Res. 2016 Dec 5;12(1):276.


Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.

Chacon-Camacho OF, Jitskii S, Buentello-Volante B, Quevedo-Martinez J, Zenteno JC.

Gene. 2013 Oct 10;528(2):178-82. doi: 10.1016/j.gene.2013.07.021. Epub 2013 Jul 27.


Fine mapping for Weaver syndrome in Brown Swiss cattle and the identification of 41 concordant mutations across NRCAM, PNPLA8 and CTTNBP2.

McClure M, Kim E, Bickhart D, Null D, Cooper T, Cole J, Wiggans G, Ajmone-Marsan P, Colli L, Santus E, Liu GE, Schroeder S, Matukumalli L, Van Tassell C, Sonstegard T.

PLoS One. 2013;8(3):e59251. doi: 10.1371/journal.pone.0059251. Epub 2013 Mar 20.


An unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean Grey cattle.

Drögemüller C, Reichart U, Seuberlich T, Oevermann A, Baumgartner M, Kühni Boghenbor K, Stoffel MH, Syring C, Meylan M, Müller S, Müller M, Gredler B, Sölkner J, Leeb T.

PLoS One. 2011 Apr 15;6(4):e18931. doi: 10.1371/journal.pone.0018931.


Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models.

Andrews TD, Whittle B, Field MA, Balakishnan B, Zhang Y, Shao Y, Cho V, Kirk M, Singh M, Xia Y, Hager J, Winslade S, Sjollema G, Beutler B, Enders A, Goodnow CC.

Open Biol. 2012 May;2(5):120061. doi: 10.1098/rsob.120061.


A canine DNM1 mutation is highly associated with the syndrome of exercise-induced collapse.

Patterson EE, Minor KM, Tchernatynskaia AV, Taylor SM, Shelton GD, Ekenstedt KJ, Mickelson JR.

Nat Genet. 2008 Oct;40(10):1235-9. doi: 10.1038/ng.224. Epub 2008 Sep 21.


A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle.

Philipp U, Lupp B, Mömke S, Stein V, Tipold A, Eule JC, Rehage J, Distl O.

PLoS One. 2011;6(12):e28857. doi: 10.1371/journal.pone.0028857. Epub 2011 Dec 12.

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