Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Hadil Al-Jallad"'
Autor:
Josephine T. Tauer, Hadil Al-Jallad, Mayumi Umebayashi, Dena Bakhsh, Damian Rauch, Simon D. Tran, Frank Rauch, Reggie Hamdy
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)
Abstract Pediatric patients with Osteogenesis Imperfecta (OI), a heritable connective tissue disorder, frequently suffer from long bone deformations. Surgical correction often results in bone non-unions, necessitating revision surgery with autogenous
Externí odkaz:
https://doaj.org/article/7e7d0b830fd74be392b333996d84d02c
Autor:
Josephine T. Tauer, Hadil Al-Jallad, Mayumi Umebayashi, Dena Bakhsh, Damian Rauch, Simon D. Tran, Frank Rauch, Reggie Hamdy
Publikováno v:
Scientific reports. 12(1)
Pediatric patients with Osteogenesis Imperfecta (OI), a heritable connective tissue disorder, frequently suffer from long bone deformations. Surgical correction often results in bone non-unions, necessitating revision surgery with autogenous bone gra
Autor:
Mina W. Morcos, José Luis Millán, Monzur Murshed, Jingjing Li, Hadil Al-Jallad, Colin Farquharson, Reggie C. Hamdy
Publikováno v:
Bone & Joint Research. 7:397-405
ObjectivesBone fracture healing is regulated by a series of complex physicochemical and biochemical processes. One of these processes is bone mineralization, which is vital for normal bone development. Phosphatase, orphan 1 (PHOSPHO1), a skeletal tis
Autor:
Marc D. McKee, Pierre Moffatt, Peter J. Roughley, Francis H. Glorieux, Frank Rauch, Telma Palomo, Hadil Al-Jallad
Publikováno v:
Bone. 76:115-120
Osteogenesis imperfecta type VI is caused by mutations in SERPINF1, which codes for pigment-epithelium derived factor (PEDF). Most of the reported SERPINF1 mutations lead to premature termination codons, but three in-frame insertion or deletion mutat
Publikováno v:
BioMed Research International
BioMed Research International, Vol 2015 (2015)
BioMed Research International, Vol 2015 (2015)
Bone is one of the most dynamic tissues in the human body that can heal following injury without leaving a scar. However, in instances of extensive bone loss, this intrinsic capacity of bone to heal may not be sufficient and external intervention bec
Autor:
Klaus Klaushofer, Hadil Al-Jallad, Telma Palomo, Francis H. Glorieux, Frank Rauch, Paul Roschger, Pierre Moffatt, Brian C. Lentle
Publikováno v:
Bone. 67:63-70
Recent reports have shown that homozygous or compound heterozygous mutations in WNT1 can give rise to severe bone fragility resembling osteogenesis imperfecta, whereas heterozygous WNT1 mutations have been found in adults with dominant early-onset os
Autor:
Somayyeh Fahiminiya, Francis H. Glorieux, John S. Mort, Jacek Majewski, Frank Rauch, Pierre Moffatt, Klaus Klaushofer, Hadil Al-Jallad, Paul Roschger
Publikováno v:
Journal of Bone and Mineral Research. 29:1805-1814
Mutations in PLS3 have been identified as a cause of bone fragility in children, but the bone phenotype associated with PLS3 mutations has not been reported in detail. PLS3 is located on the X chromosome and encodes the actin-binding protein plastin
Autor:
Ghalib Bardai, Hadil Al-Jallad, Pierre Moffatt, Frank Rauch, Pamela Trejo, Leanne M Ward, Francis H. Glorieux
Publikováno v:
Calcified tissue international. 98(6)
Osteogenesis imperfecta (OI) type VI is a recessively inherited form of OI that is caused by mutations in SERPINF1, the gene coding for pigment-epithelium derived factor (PEDF). Here, we report on two apparently unrelated children with OI type VI who
Autor:
Sergei P. Boudko, Javad Nadaf, Jacek Majewski, Martine Tétreault, Jennifer Stimec, Roberto Mendoza-Londono, Klaus Klaushofer, Frank Rauch, Telma Palomo, Andrew W. Howard, Jean Ouellet, John S. Mort, Paul Roschger, Hans-Peter Bächinger, Peter Kannu, Pierre Moffatt, Etienne Sochett, Somayyeh Fahiminiya, Hadil Al-Jallad, Lucie Dupuis
Publikováno v:
Bone Abstracts.
Secreted protein, acidic, cysteine-rich (SPARC) is a glycoprotein that binds to collagen type I and other proteins in the extracellular matrix. Using whole-exome sequencing to identify the molecular defect in two unrelated girls with severe bone frag