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

Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse model

在离体细丝蛋白 B 小鼠模型中,TGFβ/BMP 信号调节可挽救椎间盘退变

Jennifer Zieba, Kimberly N Forlenza, Kelly Heard, Jorge H Martin, Michaela Bosakova, Daniel H Cohn, Stephen P Robertson, Pavel Krejci, Deborah Krakow

4-PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta

4-PBA 治疗可改善成骨不全症 Aga2 小鼠模型中的骨表型

Ivan Duran, Jennifer Zieba, Fabiana Csukasi, Jorge H Martin, Davis Wachtell, Maya Barad, Brian Dawson, Bohumil Fafilek, Christina M Jacobsen, Catherine G Ambrose, Daniel H Cohn, Pavel Krejci, Brendan H Lee, Deborah Krakow

Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia

LAMA5 的双等位基因突变会破坏骨骼非典型粘着斑通路,并产生明显的弯曲骨发育不良

Maya Barad, Fabiana Csukasi, Michaela Bosakova, Jorge H Martin, Wenjuan Zhang, S Paige Taylor, Ralph S Lachman, Jennifer Zieba, Michael Bamshad, Deborah Nickerson, Jessica X Chong, Daniel H Cohn, Pavel Krejci, Deborah Krakow, Ivan Duran

Dominant-negative SOX9 mutations in campomelic dysplasia

丘脑发育不良症中的显性负性 SOX9 突变

Fabiana Csukasi, Ivan Duran, Wenjuan Zhang, Jorge H Martin, Maya Barad, Michael Bamshad, Mary Ann Weis, David Eyre, Deborah Krakow, Daniel H Cohn

The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling

PTH/PTHrP-SIK3通路通过改变mTOR信号传导影响骨骼形成

Fabiana Csukasi ,Ivan Duran ,Maya Barad ,Tomas Barta ,Iva Gudernova ,Lukas Trantirek ,Jorge H Martin ,Caroline Y Kuo ,Jeremy Woods ,Hane Lee ,Daniel H Cohn ,Pavel Krejci ,Deborah Krakow

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

DDRGK1 的缺失调节脊椎骨骺端发育不良中的 SOX9 泛素化

Adetutu T Egunsola, Yangjin Bae, Ming-Ming Jiang, David S Liu, Yuqing Chen-Evenson, Terry Bertin, Shan Chen, James T Lu, Lisette Nevarez, Nurit Magal, Annick Raas-Rothschild, Eric C Swindell, Daniel H Cohn, Richard A Gibbs, Philippe M Campeau, Mordechai Shohat, Brendan H Lee

A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen

HSP47、FKBP65 和 BiP 形成的分子伴侣复合物调节 I 型前胶原的端肽赖氨酰羟基化

Ivan Duran, Jorge H Martin, Mary Ann Weis, Pavel Krejci, Peter Konik, Bing Li, Yasemin Alanay, Caressa Lietman, Brendan Lee, David Eyre, Daniel H Cohn, Deborah Krakow

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

MYH3 突变揭示了胚胎肌球蛋白在出生后的作用,这些突变会改变 TGFβ 信号通路并导致常染色体显性遗传性脊椎腕跗骨融合症。

Jennifer Zieba ,Wenjuan Zhang ,Jessica X Chong ,Kimberly N Forlenza ,Jorge H Martin ,Kelly Heard ,Dorothy K Grange ,Merlin G Butler ,Tjitske Kleefstra ,Ralph S Lachman ,Deborah Nickerson ,Michael Regnier ,Daniel H Cohn ,Michael Bamshad ,Deborah Krakow

Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network

人类生长板软骨细胞中独特表达的基因揭示了独特的调控网络

Bing Li, Karthika Balasubramanian, Deborah Krakow, Daniel H Cohn

Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia

IFT-A 卫星核心成分基因 IFT43 和 IFT121 的突变会导致短肋多指综合征,并伴有明显的弯曲畸形

Ivan Duran, S Paige Taylor, Wenjuan Zhang, Jorge Martin, Faisal Qureshi, Suzanne M Jacques, Robert Wallerstein, Ralph S Lachman, Deborah A Nickerson, Michael Bamshad, Daniel H Cohn, Deborah Krakow