Sökning: "genetic screen"

Visar resultat 6 - 10 av 123 avhandlingar innehållade orden genetic screen.

1. 6. Genetic studies of colorectal cancer

   Författare :Johanna Skoglund; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :colorectal cancer; linkage analysis; TGFBR1; case-control study; meta-analysis;

   Sammanfattning : Colorectal cancer is the third most commonly diagnosed cancer worldwide with an incidence rate of over 1 million cases per year. A genetic contribution has been suggested to be involved in around 35% of all colorectal cancer cases. LÄS MER

3. 7. Genetic studies of zebrafish muscles : clues to protection in muscle disease

   Författare :Nils Dennhag; Fatima Pedrosa Domellöf; Jonas von Hofsten; Tatjana Haitina; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; zebrafish; muscle; extraocular muscles; intermediate filaments; bioinformatics; genetics; CRISPR Cas9; oftalmiatrik; ophthalmology; cellforskning; cell research;

   Sammanfattning : Muscular dystrophies (MDs) are caused by dysregulation of over 40 proteins but commonly share features of muscle weakness, myofiber death and regeneration, loss of ambulation and premature death. A MD involves a broken link anywhere in the connection from extracellular matrix through the sarcolemma to the sarcomere. LÄS MER

4. 8. Studies of Spinal Motor Control Networks in Genetically Modified Mouse Models

   Författare :Henrik Gezelius; Klas Kullander; Ted Ebendal; Martyn Goulding; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; acetyl choline; central nervous system; central pattern generator; Cre recombinase; development; genetic screen; glutamate; interneuron; motor neuron; mouse; mouse genetics; movement; network; neuronal network; nicotinic receptors; physiology; Renshaw cell; rhythm; spinal cord; transmitter; Neuroscience; Neurovetenskap; Neurobiology; Neurobiologi; Molecular neurobiology; Molekylär neurobiologi; Neurophysiology; Neurofysiologi; Neurobiology; Neurobiologi; medicinsk utvecklings- och neurobiologi; Developmental Neurosciences;

   Sammanfattning : Spinal neurons are important in several aspects motor control. For example, the neurons essential for locomotor movements reside in the ventral spinal cord. In this thesis, different motor control functions are being related to neuronal populations defined by their common expression of a gene. LÄS MER

5. 9. Genetic dissection of tubulogenesis in the Drosophila trachea

   Författare :Johanna Hemphälä; Christos Samakovlis; Reinhard Schuh; Stockholms universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Drosophila; trachea; transposon mutagenesis screen; fusion; Dpp; Delta; tubular dimensions; Grainyhead; Krotzkopf verkehrt; intralumenal matrix; Developmental biology; Utvecklingsbiologi;

   Sammanfattning : The formation of branched tubular organs, such as the mammalian lung kidney and vascular system, is an essential process in animal development. The Drosophila tracheal (respiratory) system provides a genetic model system to study the highly ordered process of branch outgrowth and fusion required to form continuous tubular networks. LÄS MER

7. 10. Genetic background of familial primary hyperparathyroidism

   Författare :Andrea Villablanca; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Parathyroid; primary hyperparathyroidism; MEN 1; HPT-JT; FIHP; Menin; Parafibromin; tumour suppressor gene; loss of heterozygosity; mutation analysis; immunohistochemistry;

   Sammanfattning : In this thesis the aim has been to identify and characterise gene(s) involved in familial primary hyperparathyroidism (PHPT). In multiple endocrine neoplasia type 1 (MEN 1), the hyperparathyroidism-jaw tumour syndrome (HPT-JT) and familial isolated hyperparathyroidism (FIHP), in which primary hyperparathyroidism is seen in most or almost all gene carriers. LÄS MER