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Human genetics in troubled times and places

The development of human genetics world-wide during the twentieth century, especially across Europe, has occurred against a background of repeated catastrophes, including two world wars and the ... of government sponsored eugenics programmes, now mostly discarded. During the post-world war 2 decades, human genetics research benefited greatly from recognition of the genetic dangers posed by

From mechanisms to therapy: RNA processing’s impact on human genetics

aberrant RNA processing in inherited diseases and cancer. As editors of this special issue, it has been our goal to increase the awareness of the readership of Human Genetics of RNA processing as a mechanism ... Human Genetics for helping us to share this important corner of the RNA world with you. Berget SM , Moore C , Sharp PA ( 1977 ) Spliced segments at the 5′ terminus of adenovirus 2 late mRNA . Proc Natl

Chia-Chen Tan and genetics in modern China

internationalization of Chinese genetics (Fig. 1). Chia-Chen Tan was born on 1 Zhejiang Normal University , Jinhua 321004 , China - during war times, he continued his researches on genetics of lady-bird and fruit ... flies. It was in this period that he made world-famous discovery about mosaic dominant inheritance of color patterns in the lady-bird beetles, which is still a classical example in modern genetics

Human genetics as a model for target validation: finding new therapies for diabetes

towards new therapies remains slow. A major barrier is the insufficiency of traditional preclinical models for predicting drug efficacy and safety. Human genetics offers a complementary model to assess

MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion | Human Molecular Genetics | Oxford Academic

care and use of animals were followed. This article does not contain any studies with human participants performed by any of the authors. Supplementary Material Supplementary Material is available at ... TrkA receptors after internalisation in human airway smooth muscle cells . Biochim. Biophys. Acta , 1783 , 1964 - 1971 . 40. Jullien , J. , Guili , V. , Derrington , E.A. , Darlix , J.L. , Reichardt

Assessment of Genetics Understanding

to employ an experimental research design to quantify the degree to which situational features impact inferences about participants’ understanding of Mendelian genetics. Two participant samples from ... features play a significant role in some aspects of undergraduate participants’ genetics reasoning. Specifically, a problem featuring human albinism elicited higher quality arguments among early career

The genetics of aniridia — simple things become complicated

Department of Medical Genetics, Poznan University of Medical Sciences , Rokietnicka 8, 60-806 Poznan , Poland 2 Anna Wawrocka Aniridia is a rare, panocular disorder characterized by a variable degree of ... variants of the PAX6 gene have been identified and recorded in the Human PAX6 Allelic Variant Database (Leiden Open Variation Database, LOVD). Of all intragenic point mutations in the PAX6 gene, 94% result

Local adaptation in European populations affected the genetics of psychiatric disorders and behavioral traits

0 1 0 Department of Psychiatry, Yale School of Medicine and VA CT Healthcare Center , 950 Campbell Avenue, West Haven, CT 06516 , USA 1 Departments of Genetics and Neuroscience, Yale School of ... many loci) during different phases of human evolutionary history [ 4 ] including to the present day [ 5 ]. This is consistent with several other investigations that found evidence of polygenic

Synaptic dysfunction in complex psychiatric disorders: from genetics to mechanisms

. Here, we focus on recent genetic and mechanistic studies that provide novel insights into synaptic dysfunction in complex psychiatric disorders. Genetics of synaptic dysfunction in psychiatric disorders ... phenotypes and the use of appropriate functional assays are important challenges in understanding complex psychiatric diseases. In the past decade, with the development of human induced pluripotent stem cell

Genetics in TNF-TNFR pathway: A complex network causing spondyloarthritis and conditioning response to anti-TNFα therapy

Assessment Questionnaire; HPRT1, Hypoxanthine-guanine phosphoribosyltransferase; HLA-B27, Human Leukocyte Antigen B27; IBD, Inflammatory Bowel Diseases; MHC, major histocompatibility complex; MMP3, matrix ... to the human leukocyte antigen (HLA)-B27 haplotype [ 7 ]. Single nucleotide polymorphisms (SNPs) in genes involved in TNFα signalling, as those in the promoter region of TNFA gene, in TNFSF15 (TNF

Genetics of multifactorial disorders: proceedings of the 6th Pan Arab Human Genetics Conference

The 6th Pan Arab Human Genetics Conference (PAHGC), “Genetics of Multifactorial Disorders” was organized by the Center for Arab Genomic Studies ( in Dubai, United Arab Emirates ... ‑Ali 0 Abdul Rezzak Hamzeh 0 0 Background The 6th Pan Arab Human Genetics Conference, “Genet- ics of Multifactorial Disorders” was hosted by Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical

Haiku: New paradigm for the reverse genetics of emerging RNA viruses

Reverse genetics is key technology for producing wild-type and genetically modified viruses. The ISA (Infectious Subgenomic Amplicons) method is a recent versatile and user-friendly reverse genetics

Estimating Sampling Selection Bias in Human Genetics: A Phenomenological Approach

This research is the first empirical attempt to calculate the various components of the hidden bias associated with the sampling strategies routinely-used in human genetics, with special reference to ... methods have restrictions and drawbacks [2, 3]. In human evolutionary genetics, especially when inferring past demography upon Y chromosome diversity, direct methods based on either self-declared ancestry

The mitotic spindle: linking teratogenic effects of Zika virus with human genetics?

Medical Genetics, University Rostock Medical Center , Ernst-Heydemann-Strasse 8, D-18057 Rostock , Germany 1 Centre for Human Genetics, University of Bremen , Leobener Str. ZHG, D-28359 Bremen , Germany 2 ... . Zika virus; Microcephaly; Chorioretinopathy; Mechanisms; Syndromes; Genetics; Phenocopy Background The Zika virus (ZIKV) is an arbovirus of the flaviviridae family with a single-stranded RNA genome of

Genetics Education

science. In this sense, history, philosophy, and sociology of science can provide educators with important insights and ideas about how to structure teaching about genetics. This is the normative dimension ... students and teachers in classrooms. For instance, to take the topic of an article in this issue as an example, there might be several arguments about whether we should keep teaching Mendelian genetics in

Human Genetics and the Causal Role of Lipoprotein(a) for Various Diseases

oxidized phospholipids (OxPl) to apo(a) of the Lp(a) particle [ 9, 10 ]. Levels of Lp(a) and OxPl in human plasma are highly correlated, suggesting that individuals with high Lp(a) have a higher binding ... with CVD [ 12, 13 ]. LPA Gene and Structure of Lp(a) To understand the genetics of Lp(a) one first has to understand the structure of the LPA gene and how this structure has developed during

Comparative review of human and canine osteosarcoma: morphology, epidemiology, prognosis, treatment and genetics

review compares the clinical characteristics, gross morphology and histopathology, aetiology, epidemiology, and genetics of canine and human OSA. Finally, the current position of canine OSA genetic ... are identified. Bone cancer; Canine; Genetics; Human; Molecular diagnostics; Osteosarcoma; Treatment Background Cancer is a leading cause of non-communicable morbidity and mortality throughout the

Human Genetics’ 50th Anniversary Issue

The journal Human Genetics celebrates its 50th anniversary in 2014. Two giants in the field of human genetics, Arno Motulsky (1923–), of the University of Washington in Seattle, and Friedrich Vogel ... University a venue , Suite 510, 101, College Street , t oronto , ON M5G 0a3, Canada - the journal Human Genetics celebrates its 50th anniver sary in 2014. t wo giants in the field of human genetics, arno