Johanna Hästbacka
- The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
1994/09/01 by Johanna Hästbacka, Albert de la Chapelle, Melanie M. Mahtani +13 · 573 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Allele #Biology #Chromosome #Connective tissue disorders research #Gene #Gene mapping #Genetic linkage #Genetics #Haplotype #Linkage disequilibrium #Locus (genetics) #Neonatal Respiratory Health Research #Population #Positional cloning #RNA modifications and cancer
- Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
1996/01/01 by Andrea Superti-Furga, Andrea Superti‐Furga, Johanna Hästbacka +10 · 240 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Allele #Anatomy #Biology #Bone health and treatments #Cartilage #Chondrodysplasia punctata #Connective tissue disorders research #Dysplasia #Endocrinology #Gene #Genetics #Molecular biology #Mutation #Phenotype #Proteoglycans and glycosaminoglycans research #Sulfation #Transporter
- SLC26A2 (Diastrophic Dysplasia Sulfate Transporter) is Expressed in Developing and Mature Cartilage But Also in Other Tissues and Cell Types
2001/08/01 by Siru Haila, Johanna Hästbacka, Tom Böhling +3 · 100 citations
Medicine · Neuroscience · #Neonatal Respiratory Health Research #Neuroscience of respiration and sleep #Asthma and respiratory diseases #Immunostaining #Biology #In situ hybridization #Molecular biology #Cartilage #Northern blot #Pathology #Immunohistochemistry #Gene expression #Gene #Anatomy #Genetics #Medicine #Immunology
- The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells
2000/03/03 by Siru Haila, Ulpu Saarialho‐Kere, Ulpu Saarialho-Kere +8 · 54 citations
Medicine · #Biology #Crypt #Dysplasia #Endocrinology #Epithelium #Gastroesophageal reflux and treatments #Gene #Gene expression #Helicobacter pylori-related gastroenterology studies #In situ hybridization #Inflammatory bowel disease #Intestinal epithelium #Medicine #Molecular biology #Pathology #Potassium and Related Disorders #Villin
- Identification of the Finnish founder mutation for diastrophic dysplasia (DTD)
1999/09/01 by Johanna Hästbacka, Anne Kerrebrock, Anne W. Kerrebrock +8 · 44 citations
Biochemistry, Genetics and Molecular Biology · #Alternative splicing #Biology #Exon #Founder effect #Gene #Genetics #Genotype #Haplotype #Ion Transport and Channel Regulation #Mutation #RNA Research and Splicing #RNA modifications and cancer #Splice site mutation #Transition (genetics)