Results 91 to 100 of about 3,792 (182)

Biological activity of a genetically modified BMP-2 variant with inhibitory activity [PDF]

, 2009
Background Alterations of the binding epitopes of bone morphogenetic protein-2 (BMP-2) lead to a modified interaction with the ectodomains of BMP receptors.
Klammert, Uwe, Klingelhöffer, Christoph, Kübler, Alexander C, Nickel, Joachim, Reuther, Tobias, Sebald, Walter, Würzler, Kristian   +6 more
core   +3 more sources

Fibrodysplasia ossificans progressiva.

JPMA. The Journal of the Pakistan Medical Association, 2011
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder of the connective tissue characterized by progressive disability as a result of extensive extra skeletal enchondral bone formation and malformed big toes which are often monophalangic.
Nadia, Shaikh, Fehmina, Arif
openaire   +3 more sources

Fibrodysplasia Ossificans Progressiva in an Adult Indian Male

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2014
Following its first description by Guy Patin in 1692 as a disease that turned a woman into wood, Fibrodysplasia Ossificans Progressiva has maintained its low profile that too mainly in textbooks and rarely does one encounter a live walking individual ...
Rachit Harjai, Sushil Ghanshyam Kachewar
doaj  

Heterotopic Ossification: A Comprehensive Review [PDF]

, 2019
Heterotopic ossification (HO) is a diverse pathologic process, defined as the formation of extraskeletal bone in muscle and soft tissues. HO can be conceptualized as a tissue repair process gone awry and is a common complication of trauma and surgery ...
Ding, Catherine, Fayad, Laura, James, Aaron W, Levi, Benjamin, Levin, Adam, Lisiecki, Jeffrey, McCarthy, Edward, Meyers, Carolyn, Miller, Sarah, Sono, Takashi   +9 more
core   +1 more source

KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses [PDF]

, 2018
High-coverage whole-genome sequencing data of a single ethnicity can provide a useful catalogue of population-specific genetic variations, and provides a critical resource that can be used to more accurately identify pathogenic genetic variants.
A McKenna, A Scally, A Telenti, AA Alshatwi, B Charlesworth, C Dong, C Genomes Project, C Loveday, D Hong, D Lakich, D Pinto, D Welter, DE Reich, DG MacArthur, DI Boomsma, EM Shore, FS Collins, GH Perry, H Li, H Stefansson, HP-AS Consortium, J Huddleston, J Jakobsson, J Wang, JI Kim, JR MacDonald, K Chen, K Ye, L Feuk, LP Wong, LT Chen, M Lek, M Nagasaki, MC Hunt, MJ Bamshad, MJ Landrum, ML Bondeson, P Cingolani, P Kraft, PH Sudmant, PH Sudmant, R Ihaka, R Redon, RE Mills, S Besenbacher, S Lee, S Malik, S Purcell, S Tunaru, SA McCarroll, SH Kwak, SM Ahn, ST Sherry, T Mimori, TL Yang, V Boeva, W Zhang, X Wang, YS Cho, YS Ju   +59 more
core   +2 more sources

Fibrodysplasia ossificans progressiva: case report Fibrodisplasia ossificante progressiva: relato de caso

Arquivos de Neuro-Psiquiatria, 2005
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder characterized by postnatal progressive heterotopic ossification of the connective tissue and congenital malformation of the big toes. We report on a nine-year-old girl with
Andre Leite Gonçalves, Marcelo Rodrigues Masruha, Carmelinda Correia de Campos, Patricia Longo Ribeiro Delai, Luiz Celso Pereira Vilanova   +4 more
doaj   +1 more source

BMP type I receptor inhibition reduces heterotopic ossification [PDF]

, 2010
Fibrodysplasia ossificans progressiva (FOP) is a congenital disorder of progressive and widespread postnatal ossification of soft tissues1,2,3,4 and is without known effective treatments.
Bloch, Kenneth D., Bouxsein, Mary L., Cuny, Gregory D., Deng, Donna Y., Hong, Charles C., Hong, Deborah W., Kamiya, Nobuhiro, Katagiri, Takenobu, Lai, Carol S., McManus, Patrick M., Mishina, Yuji, Peterson, Randall T., Sachidanandan, Chetana, Tomokazu, Fukudu, Yu, Paul B.   +14 more
core   +1 more source

Fibrodysplasia ossificans progressiva [PDF]

The Indian Journal of Pediatrics, 1994
S, Ganguly, D K, Paul, B, Ghosal, A, Choube   +3 more
openaire   +3 more sources

A 24-year-old man with fibrodysplasia ossificans progressiva: clinical challenges and management [PDF]

Fibrodysplasia ossificans progressiva (FOP) is a rare, disabling genetic disorder characterized by progressive heterotopic ossification of skeletal muscles and connective tissues.
Abdal, Syed Jamil, Haq, Syed Atiqul, Islam, M. Ariful, Nahar, Sharmin, Shahin, M. Abu, Yesmin, Sabrina   +5 more
core   +2 more sources

Towards targeting overactive BMP signaling in Fibrodysplasia Ossificans Progressiva [PDF]

, 2015
Fibrodysplasia Ossificans Progressiva (FOP) is a rare monogenetic disorder in which patients develop heterotopic ossification (HO). A heterozygous mutation in BMP type I receptor ALK2 results in hyper-sensitized BMP signaling. The aim of this study is to
Sánchez-Duffhues, Gonzalo, ten Dijke, Peter, van Staalduinen, Jente   +2 more
core   +2 more sources