犬类遗传学特刊：人类疾病和基因治疗的动物模型、犬类遗传性疾病的新发现以及家犬临床基因检测的标准和指南。 - Suppr

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Special issue on canine genetics: animal models for human disease and gene therapies, new discoveries for canine inherited diseases, and standards and guidelines for clinical genetic testing for domestic dogs.

作者信息

Shaffer Lisa G

机构信息

Paw Print Genetics, Genetic Veterinary Sciences, Inc., 220 E Rowan, Suite 220, Spokane, WA, 99207, USA.

出版信息

Hum Genet. 2019 May;138(5):437-440. doi: 10.1007/s00439-019-02025-5. Epub 2019 May 5.

DOI:10.1007/s00439-019-02025-5

PMID:31056728

Abstract

摘要

相似文献

Special issue on canine genetics: animal models for human disease and gene therapies, new discoveries for canine inherited diseases, and standards and guidelines for clinical genetic testing for domestic dogs.

Hum Genet. 2019 May;138(5):437-440. doi: 10.1007/s00439-019-02025-5. Epub 2019 May 5.

Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants.

Hum Genet. 2019 May;138(5):525-533. doi: 10.1007/s00439-019-01997-8. Epub 2019 Mar 15.

Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds.

Hum Genet. 2019 May;138(5):441-453. doi: 10.1007/s00439-019-01999-6. Epub 2019 Mar 23.

Genetic advances in sarcomeric cardiomyopathies: state of the art.

Cardiovasc Res. 2015 Apr 1;105(4):397-408. doi: 10.1093/cvr/cvv025. Epub 2015 Jan 29.

Advancing Gene Therapy for PDE6A Retinitis Pigmentosa.

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DNA testing and domestic dogs.

Mamm Genome. 2012 Feb;23(1-2):109-23. doi: 10.1007/s00335-011-9365-z. Epub 2011 Nov 10.

Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3.

Mol Vis. 2007 Jul 11;13:1094-105.

Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation.

PLoS Med. 2007 Jun;4(6):e230. doi: 10.1371/journal.pmed.0040230.

Ethics and genetic selection in purebred dogs.

Reprod Domest Anim. 2003 Feb;38(1):73-6. doi: 10.1046/j.1439-0531.2003.00384.x.

Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR Mutations.

Mol Ther. 2017 Aug 2;25(8):1866-1880. doi: 10.1016/j.ymthe.2017.05.004. Epub 2017 May 27.

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本文引用的文献

Predicting copper toxicosis: relationship between the ATP7A and ATP7B gene mutations and hepatic copper quantification in dogs.

Hum Genet. 2019 May;138(5):541-546. doi: 10.1007/s00439-019-02010-y. Epub 2019 May 6.

Personalized medicine: going to the dogs?

Hum Genet. 2019 May;138(5):467-481. doi: 10.1007/s00439-019-02020-w. Epub 2019 Apr 28.

Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines.

Hum Genet. 2019 May;138(5):501-508. doi: 10.1007/s00439-019-02013-9. Epub 2019 Apr 13.

Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies.

Hum Genet. 2019 May;138(5):455-466. doi: 10.1007/s00439-019-02003-x. Epub 2019 Apr 6.

A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions.

Hum Genet. 2019 May;138(5):535-539. doi: 10.1007/s00439-019-02005-9. Epub 2019 Mar 29.

Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds.

Hum Genet. 2019 May;138(5):441-453. doi: 10.1007/s00439-019-01999-6. Epub 2019 Mar 23.

Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants.

Hum Genet. 2019 May;138(5):525-533. doi: 10.1007/s00439-019-01997-8. Epub 2019 Mar 15.

A glycine transporter SLC6A5 frameshift mutation causes startle disease in Spanish greyhounds.

Hum Genet. 2019 May;138(5):509-513. doi: 10.1007/s00439-019-01986-x. Epub 2019 Mar 7.

Gene therapies in canine models for Duchenne muscular dystrophy.

Hum Genet. 2019 May;138(5):483-489. doi: 10.1007/s00439-019-01976-z. Epub 2019 Feb 7.

A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death.

Hum Genet. 2019 May;138(5):515-524. doi: 10.1007/s00439-019-01973-2. Epub 2019 Feb 4.

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Special issue on canine genetics: animal models for human disease and gene therapies, new discoveries for canine inherited diseases, and standards and guidelines for clinical genetic testing for domestic dogs.

作者信息

Shaffer Lisa G

机构信息

Paw Print Genetics, Genetic Veterinary Sciences, Inc., 220 E Rowan, Suite 220, Spokane, WA, 99207, USA.

出版信息

Hum Genet. 2019 May;138(5):437-440. doi: 10.1007/s00439-019-02025-5. Epub 2019 May 5.

DOI:10.1007/s00439-019-02025-5

PMID:31056728

Abstract

摘要

相似文献

Hum Genet. 2019 May;138(5):437-440. doi: 10.1007/s00439-019-02025-5. Epub 2019 May 5.

Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants.

Hum Genet. 2019 May;138(5):525-533. doi: 10.1007/s00439-019-01997-8. Epub 2019 Mar 15.

Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds.

Hum Genet. 2019 May;138(5):441-453. doi: 10.1007/s00439-019-01999-6. Epub 2019 Mar 23.

Genetic advances in sarcomeric cardiomyopathies: state of the art.

Cardiovasc Res. 2015 Apr 1;105(4):397-408. doi: 10.1093/cvr/cvv025. Epub 2015 Jan 29.

Advancing Gene Therapy for PDE6A Retinitis Pigmentosa.

Adv Exp Med Biol. 2019;1185:103-107. doi: 10.1007/978-3-030-27378-1_17.

DNA testing and domestic dogs.

Mamm Genome. 2012 Feb;23(1-2):109-23. doi: 10.1007/s00335-011-9365-z. Epub 2011 Nov 10.

Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3.

Mol Vis. 2007 Jul 11;13:1094-105.

Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation.

PLoS Med. 2007 Jun;4(6):e230. doi: 10.1371/journal.pmed.0040230.

Ethics and genetic selection in purebred dogs.

Reprod Domest Anim. 2003 Feb;38(1):73-6. doi: 10.1046/j.1439-0531.2003.00384.x.

Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR Mutations.

Mol Ther. 2017 Aug 2;25(8):1866-1880. doi: 10.1016/j.ymthe.2017.05.004. Epub 2017 May 27.

引用本文的文献

Genome-wide association studies with prolapsed gland of the third eyelid in dogs.

Front Vet Sci. 2025 Jan 24;11:1520155. doi: 10.3389/fvets.2024.1520155. eCollection 2024.

Aligning with the 3Rs: alternative models for research into muscle development and inherited myopathies.

BMC Vet Res. 2024 Oct 18;20(1):477. doi: 10.1186/s12917-024-04309-z.

Metabolic gene therapy in a canine with pulmonary hypertension secondary to degenerative mitral valve disease.

Front Vet Sci. 2024 Sep 23;11:1415030. doi: 10.3389/fvets.2024.1415030. eCollection 2024.

Manifestations of systemic disease in the retina and fundus of cats and dogs.

Front Vet Sci. 2024 Feb 20;11:1337062. doi: 10.3389/fvets.2024.1337062. eCollection 2024.

Organ-on-a-chip technologies for biomedical research and drug development: A focus on the vasculature.

Smart Med. 2023 Feb 26;2(1):e20220030. doi: 10.1002/SMMD.20220030. Epub 2023 Feb 24.

Step by Step about Germ Cells Development in Canine.

Animals (Basel). 2021 Feb 25;11(3):598. doi: 10.3390/ani11030598.

本文引用的文献

Predicting copper toxicosis: relationship between the ATP7A and ATP7B gene mutations and hepatic copper quantification in dogs.

Hum Genet. 2019 May;138(5):541-546. doi: 10.1007/s00439-019-02010-y. Epub 2019 May 6.

Personalized medicine: going to the dogs?

Hum Genet. 2019 May;138(5):467-481. doi: 10.1007/s00439-019-02020-w. Epub 2019 Apr 28.

Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines.

Hum Genet. 2019 May;138(5):501-508. doi: 10.1007/s00439-019-02013-9. Epub 2019 Apr 13.

Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies.

Hum Genet. 2019 May;138(5):455-466. doi: 10.1007/s00439-019-02003-x. Epub 2019 Apr 6.

A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions.

Hum Genet. 2019 May;138(5):535-539. doi: 10.1007/s00439-019-02005-9. Epub 2019 Mar 29.

Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds.

Hum Genet. 2019 May;138(5):441-453. doi: 10.1007/s00439-019-01999-6. Epub 2019 Mar 23.

Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants.

Hum Genet. 2019 May;138(5):525-533. doi: 10.1007/s00439-019-01997-8. Epub 2019 Mar 15.

A glycine transporter SLC6A5 frameshift mutation causes startle disease in Spanish greyhounds.

Hum Genet. 2019 May;138(5):509-513. doi: 10.1007/s00439-019-01986-x. Epub 2019 Mar 7.

Gene therapies in canine models for Duchenne muscular dystrophy.

Hum Genet. 2019 May;138(5):483-489. doi: 10.1007/s00439-019-01976-z. Epub 2019 Feb 7.

A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death.

Hum Genet. 2019 May;138(5):515-524. doi: 10.1007/s00439-019-01973-2. Epub 2019 Feb 4.