Sökning: "NEUROD1"

Visar resultat 1 - 5 av 7 avhandlingar innehållade ordet NEUROD1.

  1. 1. Pancreatic Endocrine Tumourigenesis : Genes of potential importance

    Författare :Térèse A. Johansson; Barbro Eriksson; Britt Skogseid; Gunnar Westin; Martin Bäckdahl; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pancreatic endocrine tumour; Multiple endocrine neoplasia type 1; Tumourigenesis; Notch signalling; Notch1; Hes1; Neurog3; Neurod1; Men1; Ascl1; Pou3f4; Pdx1; Rpl10; Dlk1; Dkk1; Tph1; menin; Tumour biology; Tumörbiologi;

    Sammanfattning : Understanding signalling pathways that control pancreatic endocrine tumour (PET) development and proliferation may reveal novel targets for therapeutic intervention. The pathogenesis for sporadic and hereditary PETs, apart from mutations of the MEN1 and VHL tumour suppressor genes, is still elusive. LÄS MER

  3. 2. Mechanisms by which variants in the TCF7L2 gene increase the risk of developing Type 2 diabetes

    Författare :Yuedan Zhou; diabetes och endokrinologi Genomik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; TCF7L2; rs7903146; Type 2 diabetes; β cell function; β cell survival; insulin secretion; proinsulin synthesis; proinsulin-to-insulin conversion; insulin maturation; open chromain; exon skipping; p53; TP53INP1; ISL1; MAFA; NEUROD1; PDX1; NKX6.1; PCSK1; PCSK2; SLC30A8; GWAS.;

    Sammanfattning : Type 2 diabetes mellitus (T2DM) is a heterogeneous disease with a multifactorial aetiology comprising of genetic and environmental factors. The common variant most highly associated with T2DM known to date is a SNP rs7903146 in the TCF7L2 gene. However, the role TCF7L2 plays in the development of T2DM was unclear. LÄS MER

  4. 3. The role of cocaine- and amphetamine-regulated transcript in endocrine cells

    Författare :Liliya Shcherbina; Neuroendokrin cellbiologi; []
    Nyckelord :Type 2 Diabetes; T2D; cocaine and amphetamine-regulated transcript; CART; beta-cell; K-cell; L-cell; insulin; GIP; GLP-1; incretin hormones;

    Sammanfattning : Type 2 diabetes (T2D) is a metabolic disease characterized by insufficient insulin secretion and insulin resistance. Disturbed beta-cell function is the final culprit that leads to the development of T2D. In addition, impaired incretin effect is likely a part of the pathogenesis of T2D. LÄS MER

  5. 4. The molecular basis of spiral ganglion neurons : diversity and development

    Författare :Charles Petitpre; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Hearing, one of our main senses, allows us to socialize, listen and enjoy sounds around us. The critical transmitters of the sound information are the spiral ganglion neurons (SGNs); located in the cochlea, they transmit the auditory signals from the hair cells to the brain. LÄS MER

  7. 5. The MEN 1 Pancreas : Tumor Development and Haploinsufficiency

    Författare :Margareta Halin Lejonklou; Britt Skogseid; Peter Stålberg; Andreea Barbu; Gerard Doherty; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEN 1; PNET; tumor development; haploinsufficiency; survivin; Endokrinologi och Diabetologi; Endocrinology and Diabetology;

    Sammanfattning : Multiple Endocrine Neoplasia Type I Syndrome (MEN 1) is a monogenic autosomal dominantly inherited cancer syndrome caused by a heterozygous loss of the MEN1 gene, predisposing for endocrine cell proliferation and tumor formation. MEN 1 carriers classically develop tumors in endocrine organs; the parathyroids, the endocrine pancreas, and the pituitary. LÄS MER