A5041044453- RNA Research and Splicing
- Thyroid Disorders and Treatments
- Neurogenesis and neuroplasticity mechanisms
- Pluripotent Stem Cells Research
- Hypothalamic control of reproductive hormones
- Rabbits: Nutrition, Reproduction, Health
- Complementary and Alternative Medicine Studies
- Developmental Biology and Gene Regulation
- Neurobiology and Insect Physiology Research
- Therapeutic Uses of Natural Elements
- Reproductive Biology and Fertility
- Neuroscience and Music Perception
- Thyroid Cancer Diagnosis and Treatment
- Oral and gingival health research
- Adipose Tissue and Metabolism
- Education Methods and Practices
- Diverse Music Education Insights
- Animal Nutrition and Physiology
- Insect and Pesticide Research
- Genetic Neurodegenerative Diseases
- Study of Mite Species
- Muscle Physiology and Disorders
- Genomics and Chromatin Dynamics
- Biochemical Analysis and Sensing Techniques
- Caveolin-1 and cellular processes
University of Helsinki
2008-2022
Galapagos (Netherlands)
2014
Savonlinna Central Hospital
1970
Minerva Foundation
1970
The expansion of a CAG trinucleotide repeat in the huntingtin gene, which produces protein with an expanded polyglutamine tract, is cause Huntington's disease (HD). Recent studies have reported that RNAi suppression polyglutamine-expanded (mutant HTT) HD animal models can ameliorate phenotypes. A key requirement for such preclinical studies, as well eventual clinical trials, aimed to reduce mutant HTT exposure robust method measure levels select tissues. We developed several sensitive and...
Familial growth hormone deficiency provides an opportunity to identify new genetic causes of short stature. Here we combine linkage analysis with whole-genome resequencing in patients and maternally inherited gingival fibromatosis. We report that from three unrelated families harbor either two missense mutations, c.347G>T p.(Arg116Leu) or c.1106C>T p.(Pro369Leu), KCNQ1, a gene previously implicated the long QT interval syndrome. Kcnq1 is expressed hypothalamic GHRH neurons pituitary...
Paternally-inherited loss-of-function mutations in makorin ring finger protein 3 gene (MKRN3) underlie central precocious puberty. To investigate the puberty-related mechanism(s) of MKRN3 humans, we generated two distinct bi-allelic knock-out human pluripotent stem cell lines, Del 1 and 2, differentiated them into GNRH1-expressing neurons. Both 2 clones could be neuronal progenitors neurons, however, relative expression GNRH1 did not differ from wild type cells (P = NS). Subsequently,...
Gonadotropin-releasing hormone (GnRH) neurons regulate human puberty and reproduction. Modeling their development function in vitro would be of interest for both basic research clinical translation. Here, we report a three-step protocol to differentiate pluripotent stem cells (hPSCs) into GnRH-secreting neurons. Firstly, hPSCs were differentiated FOXG1, EMX2, PAX6 expressing anterior neural progenitor (NPCs) by dual SMAD inhibition. Secondly, NPCs treated 10 days with FGF8, which is key...
Gonadotropin-releasing hormone (GnRH) neurons provide a fundamental signal for the onset of puberty and subsequent reproductive functions by secretion gonadotropin-releasing hormone. Their disrupted development or function leads to congenital hypogonadotropic hypogonadism (CHH). To model human GnRH neurons, we generated stable
Hypothalamic gonadotropin-releasing hormone (GnRH) neurons lay the foundation for human development and reproduction; however, critical cell populations entangled mechanisms underlying of GnRH remain poorly understood. Here, by using our established pluripotent stem cell-derived neuron model, we decoded cellular heterogeneity differentiation trajectories at single-cell level. We found that a glutamatergic population, which generated together with neurons, showed similar transcriptomic...
In Savonlinna in the east of Finland 1959 thyroid uptake was 60–70% control subjects and patients with nontoxic goitre (NTG) hyperthyroidism urinary excretion stable iodine 45–60 µg/day. Fourteen NTG, 3 hyperthyroid one healthy subject were studied greater detail. The turnover normal NTG exception two whom it increased. faecal 20 µg/day, renal clearance 37 ml/min calculated concentration iodide compartment 0.75–0.90 µg/l. distribution <sup>131</sup>I similar patients. a few...
MAPK activating death domain (MADD) is a multifunctional protein regulating small GTPases RAB3 and RAB27, signaling, cell survival. Polymorphisms in the MADD locus are associated with glycemic traits, but patients biallelic variants manifest complex syndrome affecting nervous, endocrine, exocrine, hematological systems. We identified homozygous splice site variant 2 siblings developmental delay, diabetes, congenital hypogonadotropic hypogonadism, growth hormone deficiency. This led to...
To read the full abstract: Disease Models & Mechanisms vol. 13,3 dmm040105. 13 Mar. 2020. doi: https://dmm.biologists.org/content/13/3/dmm040105.long
To read the full abstract: American journal of human genetics vol. 106,1 (2020): 5870. doi: https://www.sciencedirect.com/science/article/pii/S0002929719304677?via%3Dihub