230 research outputs found
Testimonia auctorum de Merkelio, das ist: Paradiesgärtlein für Garlieb [Helwig] Merkel
https://www.ester.ee/record=b4011107*es
Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation
Mutations in CYP4F22 cause autosomal recessive congenital ichthyosis (ARCI). However, less than 10% of all ARCI patients carry a mutation in CYP4F22. In order to identify the molecular basis of ARCI among our patients (a cohort of ninety-two Spanish individuals) we performed a mutational analysis using direct Sanger sequencing in combination with a multigene targeted NGS panel. From these, eight ARCI families (three of them with Moroccan origin) were found to carry five different CYP4F22 mutations, of which two were novel. Computational analysis showed that the mutations found were present in highly conserved residues of the protein and may affect its structure and function. Seven of the eight families were carriers of a highly recurrent CYP4F22 variant, c.1303C>T; p.(His435Tyr). A 12Mb haplotype was reconstructed in all c.1303C>T carriers by genotyping ten microsatellite markers flanking the CYP4F22 gene. A prevalent 2.52Mb haplotype was observed among Spanish carrier patients suggesting a recent common ancestor. A smaller core haplotype of 1.2Mb was shared by Spanish and Moroccan families. Different approaches were applied to estimate the time to the most recent common ancestor (TMRCA) of carrier patients with Spanish origin. The age of the mutation was calculated by using DMLE and BDMC2. The algorithms estimated that the c.1303C>T variant arose approximately 2925 to 4925 years ago, while Spanish carrier families derived from a common ancestor who lived in the XIII century. The present study reports five CYP4F22 mutations, two of them novel, increasing the number of CYP4F22 mutations currently listed. Additionally, our results suggest that the recurrent c.1303C>T change has a founder effect in Spanish population and c.1303C>T carrier families originated from a single ancestor with probable African ancestry
Strategi Promosi Pada PT.Yakult Indonesia Persada Cabang Surabaya II
This Study aims to provide information about promotional strategies at PT Yakult Indonesia Persada. This research uses qualitative descriptive research by doing direct observation, to get data. The result of observation obtained from PT Yakult Indonesia Persada Surabaya II Branch uses promotion mix as its promotion strategy, including advertising, sales promotion, personal selling,
public relations, and direct marketing. These activities resulted in sales increase over the past three months. The authors have suggestions for adding ad activities
such as banners that can be placed in the strategic area so that sales can increase over a long period of time
Brief von Karl August Varnhagen von Ense und Rahel Varnhagen von Ense an Adelbert von Chamisso
Octodontomys gliroides. En: SAyDS�SAREM (eds.) Categorizaci�n 2019 de los mam�feros de Argentina seg�n su riesgo de extinci�n.
PENGARUH MODEL PEMBELAJARAN PROBLEM BASED LEARNING TERHADAP HASIL BELAJAR SISTEM INSTALASI REFRIGERASI SISWA KELAS XI
PENGARUH MODEL PEMBELAJARAN PROBLEM BASED LEARNING TERHADAP HASIL BELAJAR SISTEM INSTALASI REFRIGERASI SISWA KELAS XI SMK NEGERI 5 BITUNG
Andre Ayub Ense ( 16205004) Mahasiswa Pendidikan Teknik Mesin Unima E-Mail : ayubense @gmail.com Dosen Pembimbing : I. Jemmy Charles Kewas, ST.MT II. Dra.Lenie Ratag,M.Pd
ABSTRAK Penelitian ini bertujuan untuk mengetahui apakah terdapat pengaruh penggunaan model pembelajaran problem based learning terhadap hasil belajar sistem instalasi refrigerasi siswa jurusan teknik pendingin di SMK Negeri 5 Bitung.penelitian ini merupakan penelitian Eksperimen termasuk desain pretest posttes eksperimen dengan menggunakan uji hipotesis, uji normalitas, dan uji t. Yang menjadi populasi pada penelitian ini adalah siswa Jurusan XI pendingin SMK Negeri 5 Bitung yang berjumlah 25 siswa pada semester genap tahun ajaran 2019/2020. Yang menjadi sampel penelitian sebanyak 25 siswa semester genap tahun ajaran 2019/2020. Analisis data menggunakan aplikasi SPSS 21.Hasil penelitiaan ini menunjukan bahwa ada pengaruh dengan menggunakan model pembelajaran problem based learning terhadap hasil belajar siswa, dengan hitung hipotesis rata-rata hitung sebesar t tabel pada kelompok pretest dan posttest eksperimen df 49 (n-1) = 2,009, dapat ditarik kesimpulan bahwa penelitian dengan menggunakan model pembelajaran problem basedlearning adalah terdapat peningkatan prestasi belajar siswakelas XIpendingin SMK Negeri 5 Bitung dengan model penerapan problem based learning.Kata Kunci : Problem Based Learning, Hasil Belajar</jats:p
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