Abrogation of epithelial BMP2 and BMP4 causes Amelogenesis Imperfecta by reducing MMP20 and KLK4 expression

por Xie, Xiaohua, Liu, Chao, Zhang, Hua, Jani, Priyam H., Lu, Yongbo, Wang, Xiaofang, Zhang, Bin, Qin, Chunlin
Publicado 2016

Oral health-related quality of life in Loeys-Dietz syndrome, a rare connective tissue disorder: an observational cohort study

por Nguyen, Quynh C., Duverger, Olivier, Mishra, Rashmi, Mitnik, Gabriela Lopez, Jani, Priyam, Frischmeyer-Guerrerio, Pamela A., Lee, Janice S.
Publicado 2019

Type VI Collagen Regulates Endochondral Ossification in the Temporomandibular Joint

por Komori, Taishi, Ji, Youngmi, Pham, Hai, Jani, Priyam, Kilts, Tina M., Kram, Vardit, Li, Li, Young, Marian F.
Publicado 2022

The Role of Type VI Collagen in Alveolar Bone

por Komori, Taishi, Pham, Hai, Jani, Priyam, Perry, Sienna, Wang, Yan, Kilts, Tina M., Li, Li, Young, Marian F.
Publicado 2022

Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method

por Almpani, Konstantinia, Liberton, Denise K., Jani, Priyam, Keyvanfar, Cyrus, Mishra, Rashmi, Curry, Natasha, Orzechowski, Pamela, Frischmeyer-Guerrerio, Pamela A., Lee, Janice S.
Publicado 2022

Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation

por Jani, Priyam, Nguyen, Quynh C, Almpani, Konstantinia, Keyvanfar, Cyrus, Mishra, Rashmi, Liberton, Denise, Orzechowski, Pamela, Frischmeyer-Guerrerio, Pamela A, Duverger, Olivier, Lee, Janice S
Publicado 2020

Quantitative Craniofacial Analysis and Generation of Human Induced Pluripotent Stem Cells for Muenke Syndrome: A Case Report

por Kidwai, Fahad K., Mui, Byron W. H., Almpani, Konstantinia, Jani, Priyam, Keyvanfar, Cyrus, Iqbal, Kulsum, Paravastu, Sriram S., Arora, Deepika, Orzechowski, Pamela, Merling, Randall K., Mallon, Barbara, Myneni, Vamsee D., Ahmad, Moaz, Kruszka, Paul, Muenke, Maximilian, Woodcock, Jeremiah, Gilman, Jeffrey W., Robey, Pamela G., Lee, Janice S.
Publicado 2021

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome...

por Kozycki, Christina Torres, Kodati, Shilpa, Huryn, Laryssa, Wang, Hongying, Warner, Blake M, Jani, Priyam, Hammoud, Dima, Abu-Asab, Mones S, Jittayasothorn, Yingyos, Mattapallil, Mary J, Tsai, Wanxia Li, Ullah, Ehsan, Zhou, Ping, Tian, Xiaoying, Soldatos, Ariane, Moutsopoulos, Niki, Kao-Hsieh, Marie, Heller, Theo, Cowen, Edward W, Lee, Chyi-Chia Richard, Toro, Camilo, Kalsi, Shelley, Khavandgar, Zohreh, Baer, Alan, Beach, Margaret, Long Priel, Debra, Nehrebecky, Michele, Rosenzweig, Sofia, Romeo, Tina, Deuitch, Natalie, Brenchley, Laurie, Pelayo, Eileen, Zein, Wadih, Sen, Nida, Yang, Alexander H, Farley, Gary, Sweetser, David A, Briere, Lauren, Yang, Janine, de Oliveira Poswar, Fabiano, Schwartz, Ida Vanessa D, Silva Alves, Tamires, Dusser, Perrine, Koné-Paut, Isabelle, Touitou, Isabelle, Titah, Salah Mohamed, van Hagen, Petrus Martin, van Wijck, Rogier T A, van der Spek, Peter J, Yano, Hiromi, Benneche, Andreas, Apalset, Ellen M, Jansson, Ragnhild Wivestad, Caspi, Rachel R, Kuhns, Douglas Byron, Gadina, Massimo, Takada, Hidetoshi, Ida, Hiroaki, Nishikomori, Ryuta, Verrecchia, Elena, Sangiorgi, Eugenio, Manna, Raffaele, Brooks, Brian P, Sobrin, Lucia, Hufnagel, Robert B, Beck, David, Shao, Feng, Ombrello, Amanda K, Aksentijevich, Ivona, Kastner, Daniel L
Publicado 2022