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

Disturbed ATP and AMPK homeostasis in an Ank (F377del) mouse model for craniometaphyseal dysplasia

Ank (F377del) 小鼠颅骨干骺端发育不良模型中 ATP 和 AMPK 稳态紊乱

Hatori, Ayano; Sah, Shyam Kishor; van de Wetering, Koen; Reichenberger, Ernst J; Chen, I-Ping

Skeletal abnormalities caused by a Connexin43(R239Q) mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia.

在常染色体隐性颅骨干骺端发育不良的小鼠模型中,Connexin43(R239Q)突变引起的骨骼异常

Fujii Yasuyuki, Okabe Iichiro, Hatori Ayano, Sah Shyam Kishor, Kanaujiya Jitendra, Fisher Melanie, Norris Rachael, Terasaki Mark, Reichenberger Ernst J, Chen I-Ping

Loss-of-function OGFRL1 variants identified in autosomal recessive cherubism families

在常染色体隐性遗传性颌骨囊肿家族中发现了OGFRL1功能缺失变异体

Kittaka, Mizuho; Mizuno, Noriyoshi; Morino, Hiroyuki; Yoshimoto, Tetsuya; Zhu, Tianli; Liu, Sheng; Wang, Ziyi; Mayahara, Kotoe; Iio, Kyohei; Kondo, Kaori; Kondo, Toshio; Hayashi, Tatsuhide; Coghlan, Sarah; Teno, Yayoi; Doan, Andrew Anh Phung; Levitan, Marcus; Choi, Roy B; Matsuda, Shinji; Ouhara, Kazuhisa; Wan, Jun; Cassidy, Annelise M; Pelletier, Stephane; Nampoothiri, Sheela; Urtizberea, Andoni J; Robling, Alexander G; Ono, Mitsuaki; Kawakami, Hideshi; Reichenberger, Ernst J; Ueki, Yasuyoshi

ENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia.

ENPP1 酶替代疗法可改善异位钙化,但不能挽救颅骨干骺端发育不良小鼠模型的骨骼表型

Reichenberger Ernst J, O'Brien Kevin, Hatori Ayano, Carpenter Thomas O, van de Wetering Koen, Flaman Lisa, Howe Jennifer, Ortiz Daniel, Sabbagh Yves, Chen I-Ping

Microbe-Dependent Exacerbated Alveolar Bone Destruction in Heterozygous Cherubism Mice

杂合子颌骨发育不良小鼠中微生物依赖性加剧的牙槽骨破坏

Kittaka, Mizuho; Yoshimoto, Tetsuya; Schlosser, Collin; Kajiya, Mikihito; Kurihara, Hidemi; Reichenberger, Ernst J; Ueki, Yasuyoshi

Clinicopathologic and Molecular Characteristics of Familial Cherubism with Associated Odontogenic Tumorous Proliferations

家族性颌骨囊肿伴牙源性肿瘤增生的临床病理及分子特征

Argyris, Prokopios P; Gopalakrishnan, Rajaram; Hu, Ying; Reichenberger, Ernst J; Koutlas, Ioannis G

Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts

颅骨干骺端发育不良:ANKH基因突变对人类诱导多能干细胞分化为破骨细胞产生负面影响

Chen, I-Ping; Luxmi, Raj; Kanaujiya, Jitendra; Hao, Zhifang; Reichenberger, Ernst J

Identification of ASAH1 as a susceptibility gene for familial keloids

鉴定出 ASAH1 为家族性瘢痕疙瘩的易感基因

Santos-Cortez, Regie Lyn P; Hu, Ying; Sun, Fanyue; Benahmed-Miniuk, Fairouz; Tao, Jian; Kanaujiya, Jitendra K; Ademola, Samuel; Fadiora, Solomon; Odesina, Victoria; Nickerson, Deborah A; Bamshad, Michael J; Olaitan, Peter B; Oluwatosin, Odunayo M; Leal, Suzanne M; Reichenberger, Ernst J

Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia.

在白种人和中国人的家族以及散发病例中发现了三种新的 ANO5 错义突变,这些突变与颌骨干发育不良有关

Jin Lingling, Liu Yi, Sun Fanyue, Collins Michael T, Blackwell Keith, Woo Albert S, Reichenberger Ernst J, Hu Ying

Recruitment of Yoruba families from Nigeria for genetic research: experience from a multisite keloid study

从尼日利亚招募约鲁巴族家庭参与遗传研究:一项多中心瘢痕疙瘩研究的经验

Olaitan, Peter B; Odesina, Victoria; Ademola, Samuel; Fadiora, Solomon O; Oluwatosin, Odunayo M; Reichenberger, Ernst J