Dietary phosphate supplement does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia

por Liu, Yaling, Dutra, Eliane H., Reichenberger, Ernst J., Chen, I-Ping
Publicado 2016

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

por Chen, I-Ping, Luxmi, Raj, Kanaujiya, Jitendra, Hao, Zhifang, Reichenberger, Ernst J.
Publicado 2017

The role of SH3BP2 in the pathophysiology of cherubism

por Reichenberger, Ernst J, Levine, Michael A, Olsen, Bjorn R, Papadaki, Maria E, Lietman, Steven A
Publicado 2012

Microbe‐Dependent Exacerbated Alveolar Bone Destruction in Heterozygous Cherubism Mice

por Kittaka, Mizuho, Yoshimoto, Tetsuya, Schlosser, Collin, Kajiya, Mikihito, Kurihara, Hidemi, Reichenberger, Ernst J, Ueki, Yasuyoshi
Publicado 2020

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

por Olaitan, Peter B, Odesina, Victoria, Ademola, Samuel, Fadiora, Solomon O, Oluwatosin, Odunayo M, Reichenberger, Ernst J
Publicado 2014

A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: Report of a family with review of the literature

por Sekerci, Ahmet E., Balta, Burhan, Hu, Ying, Reichenberger, Ernst J., Etoz, Osman A., Nazlim, Sinan, Bayrakdar, Ibrahim S.
Publicado 2014

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

por Jin, Lingling, Liu, Yi, Sun, Fanyue, Collins, Michael T., Blackwell, Keith, Woo, Albert S., Reichenberger, Ernst J., Hu, Ying
Publicado 2017

Cherubism: best clinical practice

por Papadaki, Maria E, Lietman, Steven A, Levine, Michael A, Olsen, Bjorn R, Kaban, Leonard B, Reichenberger, Ernst J
Publicado 2012

Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia

por Kanaujiya, Jitendra, Bastow, Edward, Luxmi, Raj, Hao, Zhifang, Zattas, Dimitrios, Hochstrasser, Mark, Reichenberger, Ernst J., Chen, I-Ping
Publicado 2018

Tlr2/4‐Mediated Hyperinflammation Promotes Cherubism‐Like Jawbone Expansion in Sh3bp2 (P416R) Knockin Mice

por Fujii, Yasuyuki, Monteiro, Nelson, Sah, Shyam Kishor, Javaheri, Homan, Ueki, Yasuyoshi, Fan, Zhichao, Reichenberger, Ernst J, Chen, I‐Ping
Publicado 2021

A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

por Hu, Ying, Chen, I-Ping, de Almeida, Salome, Tiziani, Valdenize, Do Amaral, Cassio M. Raposo, Gowrishankar, Kalpana, Passos-Bueno, Maria Rita, Reichenberger, Ernst J.
Publicado 2013