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牛原卟啉症:这种遗传性光敏感疾病的首个非人类模型。

Bovine protoporphyria: the first nonhuman model of this hereditary photosensitizing disease.

作者信息

RUTH G R, Schwartz S, Stephenson B

出版信息

Science. 1977 Oct 14;198(4313):199-201. doi: 10.1126/science.905823.

DOI:10.1126/science.905823
PMID:905823
Abstract

Protoporphyria, a photosensitizing disease documented only in humans, was transmitted as a recessive trait to seven female calves. Cutaneous lesions were extensive, and erythrocyte and fecal protoporphyrin concentrations exceeded by far those of human protoporphyria. Average ferrochelatase activity was decreased to one-half of normal in the liver of carriers, and to about one-tenth of normal in liver, kidney, heart, spleen, lung, and marrow of protoporphyrics.

摘要

原卟啉症是一种仅在人类中被记录的光敏性疾病,它作为一种隐性性状遗传给了七头雌性小牛。皮肤病变广泛,红细胞和粪便中原卟啉的浓度远远超过人类原卟啉症患者的浓度。携带者肝脏中的平均亚铁螯合酶活性降至正常的一半,而在原卟啉症患者的肝脏、肾脏、心脏、脾脏、肺和骨髓中则降至正常的约十分之一。

相似文献

1
Bovine protoporphyria: the first nonhuman model of this hereditary photosensitizing disease.牛原卟啉症:这种遗传性光敏感疾病的首个非人类模型。
Science. 1977 Oct 14;198(4313):199-201. doi: 10.1126/science.905823.
2
Protoporphyria in Limousin cattle.利木赞牛的原卟啉症
Aust Vet J. 1992 Jun;69(6):144-5. doi: 10.1111/j.1751-0813.1992.tb07488.x.
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Bovine protoporphyria: documentation of autosomal recessive inheritance and comparison with the human disease through measurement of heme synthase activity.牛原卟啉症:常染色体隐性遗传的记录以及通过测量血红素合酶活性与人类疾病的比较。
Am J Hum Genet. 1982 Mar;34(2):322-30.
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Observation on bovine congenital erythrocytic protoporphyria in the blonde d'Aquitaine breed.阿基坦金发牛品种先天性红细胞原卟啉症的观察
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Fatal liver failure in protoporphyria. Synergism between ethanol excess and the genetic defect.迟发性皮肤卟啉症中的致命性肝衰竭。乙醇过量与遗传缺陷之间的协同作用。
Gastroenterology. 1986 Jan;90(1):191-201.
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Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease.家鼠中的红细胞生成性原卟啉症。一种隐性遗传的亚铁螯合酶缺乏症,伴有贫血、光敏性和肝脏疾病。
J Clin Invest. 1991 Nov;88(5):1730-6. doi: 10.1172/JCI115491.
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Loss of hereditary uterine protoporphyria through chromosomal rearrangement in mutant Rhode Island red hens.突变的罗德岛红母鸡中通过染色体重排导致遗传性子宫原卟啉症缺失。
Int J Biochem. 1980;12(5-6):935-40. doi: 10.1016/0020-711x(80)90188-3.
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Erythropoietic protoporphyria. Hepatic implications.红细胞生成性原卟啉症。肝脏方面的影响。
Br J Dermatol. 1976 Aug;95(2):157-62. doi: 10.1111/j.1365-2133.1976.tb00819.x.
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Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts.人类原卟啉症中的血红素合成酶缺乏症。肝脏和培养的皮肤成纤维细胞中缺陷的证明。
J Clin Invest. 1975 Nov;56(5):1139-48. doi: 10.1172/JCI108189.
10
Studies in porphyria: functional evidence for a partial deficiency of ferrochelatase activity in mitogen-stimulated lymphocytes from patients with erythropoietic protoporphyria.卟啉症研究:红细胞生成性原卟啉症患者经丝裂原刺激的淋巴细胞中铁螯合酶活性部分缺乏的功能证据。
J Clin Invest. 1982 Apr;69(4):809-15. doi: 10.1172/jci110520.

引用本文的文献

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Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.人类卟啉症的鼠模型:对疾病发病机制的理解和新疗法的发展的贡献。
Mol Genet Metab. 2019 Nov;128(3):332-341. doi: 10.1016/j.ymgme.2019.01.007. Epub 2019 Jan 18.
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Bovine congenital erythropoietic protoporphyria in a crossbred limousin heifer in Ireland.爱尔兰一头利木赞杂交小母牛患牛先天性红细胞生成性原卟啉症
Ir Vet J. 2015 Jul 2;68(1):15. doi: 10.1186/s13620-015-0044-3. eCollection 2015.
3
Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.
猫科动物急性间歇性卟啉病:一种由于显性和隐性羟甲基胆素合酶突变引起的红细胞生成性卟啉病表型。
Hum Mol Genet. 2010 Feb 15;19(4):584-96. doi: 10.1093/hmg/ddp525. Epub 2009 Nov 24.
4
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.一种常见单核苷酸多态性对红细胞生成性原卟啉症遗传易感性的贡献。
Am J Hum Genet. 2006 Jan;78(1):2-14. doi: 10.1086/498620. Epub 2005 Nov 15.
5
Porphyrias: animal models and prospects for cellular and gene therapy.卟啉病:细胞和基因治疗的动物模型及前景
J Bioenerg Biomembr. 1995 Apr;27(2):239-48. doi: 10.1007/BF02110039.
6
Protoporphyrin-induced cholestasis in the isolated in situ perfused rat liver.原卟啉诱导的原位灌注大鼠肝脏胆汁淤积
J Clin Invest. 1981 Feb;67(2):385-94. doi: 10.1172/JCI110046.
7
Bovine protoporphyria: documentation of autosomal recessive inheritance and comparison with the human disease through measurement of heme synthase activity.牛原卟啉症:常染色体隐性遗传的记录以及通过测量血红素合酶活性与人类疾病的比较。
Am J Hum Genet. 1982 Mar;34(2):322-30.
8
Studies in porphyria: functional evidence for a partial deficiency of ferrochelatase activity in mitogen-stimulated lymphocytes from patients with erythropoietic protoporphyria.卟啉症研究:红细胞生成性原卟啉症患者经丝裂原刺激的淋巴细胞中铁螯合酶活性部分缺乏的功能证据。
J Clin Invest. 1982 Apr;69(4):809-15. doi: 10.1172/jci110520.
9
Accumulation of protoporphyrin IX from delta-aminolevulinic acid in bovine skin fibroblasts with hereditary erythropoietic protoporphyria. A gene-dosage effect.遗传性红细胞生成性原卟啉病患者牛皮肤成纤维细胞中δ-氨基乙酰丙酸生成原卟啉IX的累积。一种基因剂量效应。
J Exp Med. 1981 May 1;153(5):1094-101. doi: 10.1084/jem.153.5.1094.
10
Ferrochelatase and N-alkylated porphyrins.亚铁螯合酶与N-烷基化卟啉
Mol Cell Biochem. 1984 Sep;64(2):127-37. doi: 10.1007/BF00224769.