Essays about: "autosomal"

Showing result 1 - 5 of 35 essays containing the word autosomal.

1. 1. P-glykoprotein-mutationen - ABCB1-1Δ hos collies i Sverige

   University essay from SLU/Dept. of Anatomy, Physiology and Biochemistry

   Author : Alice Gustafsson; [2024]
   Keywords : P-glykoprotein; ABCB1; ABCB1-1Δ; MDR1; collie;

   Abstract : P-glykoprotein är ett effluxprotein som uttrycks på olika luminala ytor i flera organ, bland annat tarmväggen, njurtubuli, i leverns gallgångar samt i blodhjärnbarriären. Proteinet kodas av genen ABCB1 hos hund. READ MORE

3. 2. Relatedness and diversity in Swedish local chicken breeds using mitochondrial DNA D-loop sequences and SNP data

   University essay from SLU/Dept. of Animal Breeding and Genetics

   Author : Esther Taiwo Afolabi; [2023]
   Keywords : chicken; genetic diversity; mtDNA d-loop; SNP; Swedish local chicken breeds;

   Abstract : Genetic diversity is the variation in genetic information carried by individuals within a species or population. This variability plays a crucial role in enabling species to adapt and survive in changing environments and is essential for evolutionary processes. READ MORE

4. 3. Fragile Foal Syndrome (FFS) inverkan på hoppförmåga och exteriör hos svenska varmblod (SWB) : varför hoppar hästar med samma mutation på olika sätt?

   University essay from SLU/Dept. of Animal Breeding and Genetics

   Author : Kajsa Nyström; [2023]
   Keywords : Ehler-Danlos Syndrom; exteriör; Fragile Foal Syndrome FFS ; genetik; hoppförmåga; svenska varmblod SWB ;

   Abstract : Fragile Foal Syndrome (FFS) är en genetisk sjukdom som drabbar hästar. Sjukdomen karaktäriseras av svag och ömtålig bindväv. Detta bidrar till att individer homozygota för anlaget aborteras eller avlivas direkt efter fölning. Syndromet beror på en mutation som påverkar i kollagenproduktion, vilken nedärvs autosomalt recessivt. READ MORE

5. 4. Developing a reproducible bioinformatics workflow for canine inherited retinal disease

   University essay from Uppsala universitet/Institutionen för biologisk grundutbildning

   Author : Melina Toni Marie Martin; [2023]
   Keywords : CanFam4; Nextflow; Inherited Retinal Degeneration; dog; whole-genome sequencing; bioinformatics;

   Abstract : Inherited Retinal Degenerations (IRDs) are a heterogenous group of diseases which lead to vision impairment and can be found both in humans and in dogs. About 1 in 1,380 humans is estimated to suffer from an autosomal recessive IRD, which would be 5.5 million people worldwide, and many more are estimated to be unaffected carriers. READ MORE

6. 5. The initial steps in the pursuit to diagnose trimethylaminuria with liquid chromatography-tandem mass spectrometry and UniSpray ionization at CMMS

   University essay from Högskolan i Skövde/Institutionen för biovetenskap

   Author : Cristian Fransson; [2022]
   Keywords : ;

   Abstract : Trimethylaminuria is an autosomal recessive disorder characterized by a decreased oxidation capacity of trimethylamine to trimethylamine-N-oxide in the liver. The condition is diagnosed by estimating concentrations of trimethylamine and trimethylamine-N-oxide in human urine and then evaluating their respective creatinine ratios and the oxidation efficiency percentage. READ MORE