New Experimental Therapeutic Approach by siRNA for Autosomal Dominant Osteopetrosis (ADO)

Bone ◽  
2010 ◽  
Vol 46 ◽  
pp. S61
Author(s):  
Andrea Del Fattore ◽  
Marta Capannolo ◽  
Nadia Rucci ◽  
Anna Teti
Keyword(s):  
Therapeutic Approach ◽  
Autosomal Dominant ◽  
Autosomal Dominant Osteopetrosis

scholarly journals Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Parminder Kaur ◽  
Inusha Panigrahi ◽  
Harleen Kaur ◽  
Thakurvir Singh ◽  
Chakshu Chaudhry
Keyword(s):  
Hearing Loss ◽  
Bone Density ◽  
Genetic Heterogeneity ◽  
Asian Indians ◽  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Epigenetic Alterations ◽  
High Bone ◽  
High Bone Density ◽  
Autosomal Dominant Osteopetrosis

Osteopetrosis is a disorder characterized by high bone density, hepatosplenomegaly, visual and hearing loss, and anemia. Pycnodysostosis presents with short stature, acroosteolysis, and dense bones. We, hereby, present here a family with autosomal dominant osteopetrosis and also children with recessive osteopetrosis and pycnodysostosis. The molecular confirmation was done in 3 cases. Genetic heterogeneity in clinical presentation is discussed here. Further studies will help in identifying epigenetic alterations and population-specific variants and also developing targeted therapies.

scholarly journals Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis

2018 ◽  
Vol 33 (3) ◽  
pp. 380 ◽  
Author(s):  
Seon Young Kim ◽  
Younghak Lee ◽  
Yea Eun Kang ◽  
Ji Min Kim ◽  
Kyong Hye Joung ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Female Patient ◽  
Autosomal Dominant ◽  
Type Ii ◽  
Autosomal Dominant Osteopetrosis

Autosomal Dominant Osteopetrosis Type II

2009 ◽  
pp. 196-196
Author(s):  
Hubert Scharnagl ◽  
Winfried März ◽  
Markus Böhm ◽  
Thomas A. Luger ◽  
Federico Fracassi ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Type Ii ◽  
Autosomal Dominant Osteopetrosis

Radiographic imaging, densitometry and disease severity in Autosomal dominant osteopetrosis type 2

2020 ◽  
Author(s):  
Lauren M. Ladd ◽  
Erik A. Imel ◽  
Paul J. Niziolek ◽  
Ziyue Liu ◽  
Stuart J. Warden ◽  
...  
Keyword(s):  
Disease Severity ◽  
Autosomal Dominant ◽  
Radiographic Imaging ◽  
Autosomal Dominant Osteopetrosis

Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II)

2017 ◽  
Vol 102 (1) ◽  
pp. 41-52 ◽  
Author(s):  
Sebastian Butscheidt ◽  
Tim Rolvien ◽  
Uwe Kornak ◽  
Felix N. Schmidt ◽  
Thorsten Schinke ◽  
...  
Keyword(s):  
Clinical Significance ◽  
Autosomal Dominant ◽  
Autosomal Dominant Osteopetrosis

scholarly journals Interferon Gamma‐1b Does Not Increase Markers of Bone Resorption in Autosomal Dominant Osteopetrosis

2019 ◽  
Vol 34 (8) ◽  
pp. 1436-1445 ◽  
Author(s):  
Erik A Imel ◽  
Ziyue Liu ◽  
Dena Acton ◽  
Melissa Coffman ◽  
Netsanet Gebregziabher ◽  
...  
Keyword(s):  
Bone Resorption ◽  
Interferon Gamma ◽  
Autosomal Dominant ◽  
Markers Of Bone Resorption ◽  
Autosomal Dominant Osteopetrosis

scholarly journals Transcriptome analysis reveals potential biomarkers of CLCN7-dependent Autosomal Dominant Osteopetrosis Type 2 (ADO2)

Bone Reports ◽  
2020 ◽  
Vol 13 ◽  
pp. 100657
Author(s):  
Iona Norwood ◽  
Denis Szondi ◽  
Nadia Rucci ◽  
Anna Teti ◽  
Antonio Maurizi
Keyword(s):  
Transcriptome Analysis ◽  
Autosomal Dominant ◽  
Potential Biomarkers ◽  
Autosomal Dominant Osteopetrosis
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