Sökning: "Sonic hedgehog"
Visar resultat 1 - 5 av 16 avhandlingar innehållade orden Sonic hedgehog.
1. Mechanisms controlling striatal projection neurone generation, from patterning to early differentiation
Sammanfattning : The striatum is part of the telencephalon, the most anterior part of the vertebrate brain. From when it first can be identified, telencephalic morphology is highly complex and a wide range of mechanisms has been suggested to participate in its induction, patterning and neurogenesis. LÄS MER
2. Aniridia-related keratopathy : structural changes, signaling pathways and clinical aspects
Sammanfattning : Aniridia is a congenital autosomal dominant, bilateral, panocular condition, caused by haploinsufficiency of the Pax6 transcription factor. Aniridia-related keratopathy (ARK) significantly affects vision and quality of life in these patients. LÄS MER
3. Molecular and Cellular Control of Palate Development in the Mouse
Sammanfattning : The formation of a definitive secondary palate in mammals is a multistep process that comprises growth, elevation, contact and fusion of the two palatal shelves. Disruption at any step generates cleft palate, a major congenital birth defect. Therefore, it is important to understand the mechanisms governing normal palate development. LÄS MER
4. Molecular complexities of patched signaling in cancer development
Sammanfattning : Basal Cell Cancer (BCC) is the most common cancer in the Western world. Although BCCs hardly ever metastasize, invasive growth may cause considerable local tissue destruction. BCCs mainly occur as sporadic tumors but can also be found in a hereditary form in the Nevoid Basal Cell Carcinoma Syndrome (NBCCS). LÄS MER
5. Genetic studies of congenital upper limb anomalies
Sammanfattning : The overall aim of the work reported in this thesis is to improve epidemiological and genetic knowledge of congenital upper limb anomalies (CULA). To accomplish the specific aims of each paper several different methods and approaches have been used such as register studies, array comparative genome hybridization, Sanger sequencing, exome sequencing and functional studies using Lacz enhancer assay, Zebrafish morpholinos and computational transcription factor binding site prediction. LÄS MER