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Humanized mice to model rare human diseases.

作者信息

Suva Larry J

机构信息

Department of Veterinary Physiology and Pharmacology, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843.

出版信息

Proc Natl Acad Sci U S A. 2025 Jun 24;122(25):e2512731122. doi: 10.1073/pnas.2512731122. Epub 2025 Jun 16.

DOI:10.1073/pnas.2512731122
PMID:40523196
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12207434/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9889/12207434/d642ca95a9e4/pnas.2512731122fig01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9889/12207434/d642ca95a9e4/pnas.2512731122fig01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9889/12207434/d642ca95a9e4/pnas.2512731122fig01.jpg

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本文引用的文献

1
A mouse model of Jansen's metaphyseal chondrodysplasia for investigating disease mechanisms and candidate therapeutics.用于研究疾病机制和候选治疗方法的詹森干骺端软骨发育不良小鼠模型。
Proc Natl Acad Sci U S A. 2025 Jun 10;122(23):e2500176122. doi: 10.1073/pnas.2500176122. Epub 2025 Jun 2.
2
Substantially Delayed Maturation of Growth Plate Chondrocytes in "Humanized" Mice with the H223R Mutation of Jansen's Disease.患有詹森氏病H223R突变的“人源化”小鼠生长板软骨细胞成熟显著延迟。
JBMR Plus. 2023 Aug 15;7(10):e10802. doi: 10.1002/jbm4.10802. eCollection 2023 Oct.
3
Actions of Parathyroid Hormone Ligand Analogues in Humanized PTH1R Knockin Mice.
人源化 PTH1R 敲入小鼠中甲状旁腺激素配体类似物的作用。
Endocrinology. 2022 Jul 1;163(7). doi: 10.1210/endocr/bqac054.
4
PTHrP targets salt-inducible kinases, HDAC4 and HDAC5, to repress chondrocyte hypertrophy in the growth plate.甲状旁腺激素相关蛋白靶向盐诱导激酶、HDAC4 和 HDAC5,抑制生长板中的软骨细胞肥大。
Bone. 2021 Jan;142:115709. doi: 10.1016/j.bone.2020.115709. Epub 2020 Oct 24.
5
Engineering bone phenotypes in domestic animals: Unique resources for enhancing musculoskeletal research.在家畜中构建骨表型:增强肌肉骨骼研究的独特资源。
Bone. 2020 Jan;130:115119. doi: 10.1016/j.bone.2019.115119. Epub 2019 Nov 8.
6
An Inverse Agonist Ligand of the PTH Receptor Partially Rescues Skeletal Defects in a Mouse Model of Jansen's Metaphyseal Chondrodysplasia.甲状旁腺激素受体的反向激动剂配体可部分挽救詹森干骺端软骨发育不良小鼠模型中的骨骼缺陷。
J Bone Miner Res. 2020 Mar;35(3):540-549. doi: 10.1002/jbmr.3913. Epub 2019 Dec 4.
7
Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia.因杂合性H223R-PTH1R突变导致的詹森干骺端软骨发育不良,伴或不伴明显高钙血症。
J Clin Endocrinol Metab. 2016 Nov;101(11):4283-4289. doi: 10.1210/jc.2016-2054. Epub 2016 Jul 13.
8
Partial rescue of PTH/PTHrP receptor knockout mice by targeted expression of the Jansen transgene.通过詹森转基因的靶向表达部分挽救甲状旁腺激素/甲状旁腺激素相关蛋白受体基因敲除小鼠。
Endocrinology. 2001 Dec;142(12):5303-10. doi: 10.1210/endo.142.12.8553.
9
Constitutive activation of the cyclic adenosine 3',5'-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia.甲状旁腺激素(PTH)/PTH相关肽受体在詹森干骺端软骨发育不良的两个位点发生突变,导致环磷酸腺苷信号通路的组成性激活。
Mol Endocrinol. 1997 Jun;11(7):851-8. doi: 10.1210/mend.11.7.9934.
10
A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia.詹森型干骺端软骨发育不良中一种组成型激活的突变型甲状旁腺激素-甲状旁腺激素相关蛋白受体
Science. 1995 Apr 7;268(5207):98-100. doi: 10.1126/science.7701349.