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Items: 1 to 20 of 100

1.

Identification of the bovine Arachnomelia mutation by massively parallel sequencing implicates sulfite oxidase (SUOX) in bone development.

Drögemüller C, Tetens J, Sigurdsson S, Gentile A, Testoni S, Lindblad-Toh K, Leeb T.

PLoS Genet. 2010 Aug 26;6(8). pii: e1001079. doi: 10.1371/journal.pgen.1001079.

2.

A transposable element insertion in APOB causes cholesterol deficiency in Holstein cattle.

Menzi F, Besuchet-Schmutz N, Fragnière M, Hofstetter S, Jagannathan V, Mock T, Raemy A, Studer E, Mehinagic K, Regenscheit N, Meylan M, Schmitz-Hsu F, Drögemüller C.

Anim Genet. 2016 Apr;47(2):253-7. doi: 10.1111/age.12410. Epub 2016 Jan 13.

3.
4.

Arachnomelia in Brown Swiss cattle maps to chromosome 5.

Drögemüller C, Rossi M, Gentile A, Testoni S, Jörg H, Stranzinger G, Drögemüller M, Glowatzki-Mullis ML, Leeb T.

Mamm Genome. 2009 Jan;20(1):53-9. doi: 10.1007/s00335-008-9157-2. Epub 2008 Dec 31.

PMID:
19116736
5.

KDM2B is implicated in bovine lethal multi-organic developmental dysplasia.

Testoni S, Bartolone E, Rossi M, Patrignani A, Bruggmann R, Lichtner P, Tetens J, Gentile A, Drögemüller C.

PLoS One. 2012;7(9):e45634. doi: 10.1371/journal.pone.0045634. Epub 2012 Sep 27.

6.

[Establishment of the detection method for two causative genes of cattle arachnomelia syndrome].

Chu Q, Jiao SH, Wang YC, Liu L, Liu AR, Wu HJ, Xie ZQ, Hou SY, Geng FJ, Wang CY, Huang XX, Tan SX, Tan R, Zhang Y, Yu Y, Zhang Y.

Yi Chuan. 2013 May;35(5):623-7. Chinese.

PMID:
23732669
7.

Assignment of the locus for arachnomelia syndrome to bovine chromosome 23 in Simmental cattle.

Buitkamp J, Kühn C, Semmer J, Götz KU.

Anim Genet. 2009 Dec;40(6):894-9. doi: 10.1111/j.1365-2052.2009.01933.x. Epub 2009 Jun 5.

PMID:
19519792
8.

Syndrome of arachnomelia in Simmental cattle.

Buitkamp J, Luntz B, Emmerling R, Reichenbach HD, Weppert M, Schade B, Meier N, Götz KU.

BMC Vet Res. 2008 Oct 1;4:39. doi: 10.1186/1746-6148-4-39.

9.

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.

10.

DUMPS cattle carry a point mutation in the uridine monophosphate synthase gene.

Schwenger B, Schöber S, Simon D.

Genomics. 1993 Apr;16(1):241-4.

PMID:
8486364
11.

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.

PMID:
19524387
12.

A non-coding genomic duplication at the HMX1 locus is associated with crop ears in highland cattle.

Koch CT, Bruggmann R, Tetens J, Drögemüller C.

PLoS One. 2013 Oct 23;8(10):e77841. doi: 10.1371/journal.pone.0077841. eCollection 2013.

13.

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.

14.

SNP-based association mapping of Arachnomelia in Fleckvieh cattle.

Seichter D, Russ I, Förster M, Medugorac I.

Anim Genet. 2011 Oct;42(5):544-7. doi: 10.1111/j.1365-2052.2010.02167.x. Epub 2011 Jan 25.

PMID:
21906105
15.

Identification of the causative gene for Simmental arachnomelia syndrome using a network-based disease gene prioritization approach.

Jiao S, Chu Q, Wang Y, Xie Z, Hou S, Liu A, Wu H, Liu L, Geng F, Wang C, Qin C, Tan R, Huang X, Tan S, Wu M, Xu X, Liu X, Yu Y, Zhang Y.

PLoS One. 2013 May 16;8(5):e64468. doi: 10.1371/journal.pone.0064468. Print 2013.

16.

Identification of a doublet missense substitution in the bovine LRP4 gene as a candidate causal mutation for syndactyly in Holstein cattle.

Duchesne A, Gautier M, Chadi S, Grohs C, Floriot S, Gallard Y, Caste G, Ducos A, Eggen A.

Genomics. 2006 Nov;88(5):610-21. Epub 2006 Jul 21.

17.

A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle.

Menoud A, Welle M, Tetens J, Lichtner P, Drögemüller C.

PLoS One. 2012;7(6):e38823. doi: 10.1371/journal.pone.0038823. Epub 2012 Jun 8.

18.

Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency.

Seidahmed MZ, Alyamani EA, Rashed MS, Saadallah AA, Abdelbasit OB, Shaheed MM, Rasheed A, Hamid FA, Sabry MA.

Am J Med Genet A. 2005 Jul 15;136(2):205-9.

PMID:
15952210
19.

Evolutionary persistence of the molybdopyranopterin-containing sulfite oxidase protein fold.

Workun GJ, Moquin K, Rothery RA, Weiner JH.

Microbiol Mol Biol Rev. 2008 Jun;72(2):228-48, table of contents. doi: 10.1128/MMBR.00041-07. Review.

20.

Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.

Johnson JL, Coyne KE, Garrett RM, Zabot MT, Dorche C, Kisker C, Rajagopalan KV.

Hum Mutat. 2002 Jul;20(1):74.

PMID:
12112661

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