日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

CRTAP-Related Osteogenesis Imperfecta: Clinical Variability and a Potential Founder Variant in CRTAP

CRTAP相关成骨不全症：临床变异性和CRTAP基因中的潜在创始人变异

期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000547923
Travessa, André M; Romeu, José Carlos; Mirco, Teresa; Vaz-de-Macedo, Carolina; Palma, Maria João; Modamio-Høybjør, Silvia; Barreiros, Céu; Magalhães, Andreia; Barão, Rafael Correia; Heath, Karen E; Sousa, Ana Berta
CRTAP
发表日期：2025
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Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants

脑室下帽状腱膜分流术治疗伴有新型复合杂合CRTAP变异的成骨不全症脑积水

期刊:Human Genome Variation
影响因子:1.3
doi:10.1038/s41439-024-00274-z
Nakamura, Shintaro; Ibi, Kyosuke; Tanaka, Hiroyuki; Takami, Hirokazu; Okada, Keita; Takasugi, Nao; Kato, Motohiro; Takahashi, Naoto; Inoue, Takanobu
CRTAP
神经科学
发表日期：2024
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Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII

CRTAP基因深内含子突变导致该蛋白产生不稳定的异构体，从而诱导I型胶原聚集，导致致命的VII型成骨不全症。

期刊:Biochimica et Biophysica Acta-Molecular Basis of Disease
影响因子:4.2
doi:10.1016/j.bbadis.2023.166741
Prajna Udupa,Akshaykumar Nanaji Shrikondawar,Shalini S Nayak,Hitesh Shah,Akash Ranjan,Katta M Girisha,Gandham SriLakshmi Bhavani,Debasish Kumar Ghosh
CRTAP
发表日期：2023
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Craniofacial and dental phenotype of two girls with osteogenesis imperfecta due to mutations in CRTAP

两名因CRTAP基因突变而患有成骨不全症的女孩的颅面和牙齿表型

期刊:
影响因子:
doi:10.1016/j.bone.2022.116516
Marulanda, Juliana; Ludwig, Karissa; Glorieux, Francis; Lee, Brendan; Sutton, V Reid; Retrouvey, Jean-Marc; Rauch, Frank
CRTAP
发表日期：2022
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Tendon and motor phenotypes in the Crtap-/- mouse model of recessive osteogenesis imperfecta

隐性成骨不全症Crtap-/-小鼠模型中的肌腱和运动表型

期刊:Elife
影响因子:6.4
doi:10.7554/eLife.63488
Matthew William Grol ，Nele A Haelterman ，Joohyun Lim ，Elda M Munivez ，Marilyn Archer ，David M Hudson ，Sara F Tufa ，Douglas R Keene ，Kevin Lei ，Dongsu Park ，Cole D Kuzawa ，Catherine G Ambrose ，David R Eyre ，Brendan H Lee
发表日期：2021
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Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix

非致死性隐性成骨不全症中 CRTAP 缺乏会导致胶原蛋白沉积到基质中减少。

期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/j.1399-0004.2011.01794.x
Valli, M; Barnes, A M; Gallanti, A; Cabral, W A; Viglio, S; Weis, M A; Makareeva, E; Eyre, D; Leikin, S; Antoniazzi, F; Marini, J C; Mottes, M
CRTAP
发表日期：2012
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Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP

CRTAP 中的小片段缺失导致严重成骨不全症

期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.34269
I M Ben Amor, F Rauch, K Gruenwald, M Weis, D R Eyre, P Roughley, F H Glorieux, R Morello
CRTAP
发表日期：2011
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Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex

脯氨酰 3-羟化酶 1 和 CRTAP 在内质网胶原脯氨酰 3-羟基化复合物中相互稳定

期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddp481
Weizhong Chang, Aileen M Barnes, Wayne A Cabral, Joann N Bodurtha, Joan C Marini
CRTAP
发表日期：2010
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Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

LEPRE1 和 CRTAP 基因的无义突变会导致严重的隐性成骨不全症

期刊:Cell and Tissue Research
影响因子:2.9
doi:10.1007/s00441-009-0872-0
Marini, Joan C; Cabral, Wayne A; Barnes, Aileen M
CRTAP
LEP
发表日期：2010
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CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII

CRTAP 缺乏症会导致小鼠模型和 VII 型成骨不全患儿出现异常高的骨基质矿化。

期刊:
影响因子:
doi:10.1016/j.bone.2009.10.037
Fratzl-Zelman, N; Morello, R; Lee, B; Rauch, F; Glorieux, F H; Misof, B M; Klaushofer, K; Roschger, P
CRTAP
发表日期：2010
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