Search Results - "SCHEMPP, Werner"
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Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans
Published in PLoS genetics (01-06-2013)“…Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this…”
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2
Great ape Y Chromosome and mitochondrial DNA phylogenies reflect subspecies structure and patterns of mating and dispersal
Published in Genome research (01-04-2016)“…The distribution of genetic diversity in great ape species is likely to have been affected by patterns of dispersal and mating. This has previously been…”
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3
Epigenetic origin of evolutionary novel centromeres
Published in Scientific reports (03-02-2017)“…Most evolutionary new centromeres (ENC) are composed of large arrays of satellite DNA and surrounded by segmental duplications. However, the hypothesis is that…”
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4
A novel system of polymorphic and diverse NK cell receptors in primates
Published in PLoS genetics (01-10-2009)“…There are two main classes of natural killer (NK) cell receptors in mammals, the killer cell immunoglobulin-like receptors (KIR) and the structurally unrelated…”
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5
Diversification and molecular evolution of ATOH8, a gene encoding a bHLH transcription factor
Published in PloS one (04-08-2011)“…ATOH8 is a bHLH domain transcription factor implicated in the development of the nervous system, kidney, pancreas, retina and muscle. In the present study, we…”
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Molecular diagnosis in dermatopathology: What makes sense, and what doesn't
Published in Experimental dermatology (01-01-2009)“…: Molecular techniques have provided us with a wealth of information about biological events in healthy individual, and improved tremendously our…”
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Correction: Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans
Published in PLoS genetics (28-06-2013)Get full text
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Y chromosomal variation tracks the evolution of mating systems in chimpanzee and bonobo
Published in PloS one (01-09-2010)“…The male-specific regions of the Y chromosome (MSY) of the human and the chimpanzee (Pan troglodytes) are fully sequenced. The most striking difference is the…”
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Complex patterns of copy number variation at sites of segmental duplications : an important category of structural variation in the human genome
Published in Human genetics (01-09-2006)“…The structural diversity of the human genome is much higher than previously assumed although its full extent remains unknown. To investigate the association…”
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10
Y-Chromosome variation in hominids: intraspecific variation is limited to the polygamous chimpanzee
Published in PloS one (27-12-2011)“…We have previously demonstrated that the Y-specific ampliconic fertility genes DAZ (deleted in azoospermia) and CDY (chromodomain protein Y) varied with…”
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11
Complex evolution of a Y-chromosomal double homeobox 4 (DUX4)-related gene family in hominoids
Published in PloS one (30-04-2009)“…The human Y chromosome carries four human Y-chromosomal euchromatin/heterochromatin transition regions, all of which are characterized by the presence of…”
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Correction: Y Chromosomal Variation Tracks the Evolution of Mating Systems in Chimpanzee and Bonobo
Published in PloS one (15-11-2010)Get full text
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13
Chromosomal evolution of the PKD1 gene family in primates
Published in BMC evolutionary biology (26-09-2008)“…The autosomal dominant polycystic kidney disease (ADPKD) is mostly caused by mutations in the PKD1 (polycystic kidney disease 1) gene located in 16p13.3…”
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Human Endogenous Retrovirus HERV-K14 Families: Status, Variants, Evolution, and Mobilization of Other Cellular Sequences
Published in Journal of Virology (01-03-2005)“…Article Usage Stats Services JVI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Evolution of the DAZ gene and the AZFc region on primate Y chromosomes
Published in BMC evolutionary biology (26-03-2008)“…The Azoospermia Factor c (AZFc) region of the human Y chromosome is a unique product of segmental duplication. It consists almost entirely of very long…”
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Evolutionary analysis of the highly dynamic CHEK2 duplicon in anthropoids
Published in BMC evolutionary biology (02-10-2008)“…Segmental duplications (SDs) are euchromatic portions of genomic DNA (> or = 1 kb) that occur at more than one site within the genome, and typically share a…”
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Chromosomal evolution of the PKD1 gene family in primates
Published in BMC evolutionary biology (16-01-2009)“…Correction to Kirsch S, Pasantes J, Wolf A, Bogdanova N, Münch C, Pennekamp P, Krawczak M, Dworniczak B, Schempp W: Chromosomal evolution of the PKD1 gene…”
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Human Endogenous Retrovirus Family HERV-K(HML-5): Status, Evolution, and Reconstruction of an Ancient Betaretrovirus in the Human Genome
Published in Journal of Virology (01-08-2004)“…Article Usage Stats Services JVI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Overrepresentation of 3q and 8q material and loss of 18q material are recurrent findings in advanced human ovarian cancer
Published in Genes chromosomes & cancer (01-05-1996)“…In order to define the ability of comparative genomic hybridization (CGH) to detect and map genetic imbalances, we investigated 47 malignant ovarian tumors and…”
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The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades
Published in Molecular biology and evolution (01-03-2015)“…Many studies of human populations have used the male-specific region of the Y chromosome (MSY) as a marker, but MSY sequence variants have traditionally been…”
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