Luisa Bonafé
- Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP
2011/05/01 by Lisenka E.L.M. Vissers, Lisenka E.L.M. Vissers, Ekkehart Lausch +21 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Alkaline phosphatase #Biochemical and Molecular Research #Biochemistry #Biology #Brachydactyly #Connective tissue disorders research #Endocrinology #Enzyme #Exome sequencing #Gene #Genetics #Hypophosphatasia #Missense mutation #Mutation #Short stature #Ubiquitin and proteasome pathways
- Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator
2021/02/10 by Lila Allou, Sara Balzano, Andreas Magg +30 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Biology #Cancer-related molecular mechanisms research #Congenital limb and hand anomalies #Exon #Gene #Genetics #Limb bud #Limb development #Locus (genetics) #Phenotype #RNA Research and Splicing
- Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia
2015/11/24 by Béryl Royer‐Bertrand, Silvia Castillo‐Taucher, Rodrigo Moreno-Salinas +12 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Endoplasmic Reticulum Stress and Disease #Lipid metabolism and biosynthesis #Skin and Cellular Biology Research
- NANS-mediated synthesis of sialic acid is required for brain and skeletal development
2016/05/23 by Clara van Karnebeek, Luisa Bonafé, Xiao‐Yan Wen +43 · 1 citation
Biochemistry, Genetics and Molecular Biology · Nursing · #Glycosylation and Glycoproteins Research #Infant Nutrition and Health #RNA modifications and cancer
- FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development
2013/05/16 by Sheila Unger, Maria W. Górna, Maria W. Górna +31 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Cardiovascular Function and Risk Factors #Congenital heart defects research #Connective tissue disorders research
- Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity
2011/01/09 by Ekkehart Lausch, Andreas Janecke, Matthias Bros +22 · 1 citation
Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · Medicine · #Autoimmunity #Biology #Bone Metabolism and Diseases #Bone and Dental Protein Studies #Cancer research #Dysplasia #Endocrinology #Galectins and Cancer Biology #Genetics #Immune system #Immunology #Osteopontin #Pathogenesis
- Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease
2016/06/29 by Pelin Özlem Şimşek‐Kiper, Hiroaki Saito, Francesca Gori +21 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Wnt/β-catenin signaling in development and cancer #Connective tissue disorders research #TGF-β signaling in diseases