Pages that link to "Q38341696"

The following pages link to Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB). (Q38341696):

Displaying 29 items.

• Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family (Q24812895) (← links)
• Ubiquitin recognition by the ubiquitin-associated domain of p62 involves a novel conformational switch (Q27649332) (← links)
• Protocol for stage 1 of the GaP study (Genetic testing acceptability for Paget's disease of bone): an interview study about genetic testing and preventive treatment: would relatives of people with Paget's disease want testing and treatment if they w (Q33246170) (← links)
• Ubiquitin-mediated signalling and Paget's disease of bone (Q33307880) (← links)
• Protocol for stage 2 of the GaP study (genetic testing acceptability for Paget's disease of bone): a questionnaire study to investigate whether relatives of people with Paget's disease would accept genetic testing and preventive treatment if they we (Q33338671) (← links)
• Somatic mutations in SQSTM1 detected in affected tissues from patients with sporadic Paget's disease of bone (Q33385264) (← links)
• Giant cell tumor in a case of Paget's disease of bone: an aggressive benign tumor exhibiting a quick response to an innovative therapeutic agent. (Q34417248) (← links)
• Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling (Q34546256) (← links)
• Contribution of genetic factors to the pathogenesis of Paget's disease of bone and related disorders (Q36710160) (← links)
• What is the relationship between Paget's disease of bone and hyperparathyroidism? (Q36710175) (← links)
• Receptor activator of nuclear factor kappaB ligand and osteoprotegerin regulation of bone remodeling in health and disease. (Q36860987) (← links)
• Cellular and molecular biology of optineurin (Q36905164) (← links)
• The molecular pathogenesis of Paget disease of bone. (Q36954710) (← links)
• Clinical and Genetic Advances in Paget's Disease of Bone: a Review (Q37642222) (← links)
• Pathogenesis of Paget disease of bone. (Q38006389) (← links)
• Paget's disease of bone: clinical review and update. (Q38138531) (← links)
• Republished: Paget's disease of bone: clinical review and update (Q38212331) (← links)
• Diagnosis and management of Paget's disease of bone. (Q38248357) (← links)
• Thirteen Chinese patients with sporadic Paget's disease of bone: clinical features, SQSTM1 mutation identification, and functional analysis (Q39366515) (← links)
• Paget's disease of bone in Italy. (Q39782394) (← links)
• Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone (Q42609192) (← links)
• Epidemiological, clinical, and genetic characteristics of Paget's disease of bone in a rural area of Calabria, Southern Italy (Q43198349) (← links)
• Mutant p62/SQSTM1 UBA domains linked to Paget's disease of bone differ in their abilities to function as stabilization signals (Q44287482) (← links)
• Novel SQSTM1 mutations in patients with Paget's disease of bone in an unrelated multiethnic American population (Q44391722) (← links)
• Indications for a genetic association of a VCP polymorphism with the pathogenesis of sporadic Paget's disease of bone, but not for TNFSF11 (RANKL) and IL-6 polymorphisms (Q46130063) (← links)
• TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations. (Q49851062) (← links)
• p62/SQSTM1 differentially removes the toxic mutant androgen receptor via autophagy and inclusion formation in a spinal and bulbar muscular atrophy mouse model. (Q51025659) (← links)
• Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone (Q51558602) (← links)
• The majority of the genetic risk for Paget’s disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes (Q57848887) (← links)