Disease relevance of Genetics, Medical

• Cystic fibrosis (CF) remains a major problem in human genetics and cell pathophysiology [1].
• Glycogen storage disease type Ib: a defect in the glucose-6-phosphate transport system in microsomal membrane (The Japan Society of Human Genetics Award lecture) [2].
• An animal model of human acid sphingomyelinase deficiency (Niemann-Pick disease) and the study of its enzyme replacement (the Japan Society of Human Genetics award lecture) [3].
• A 3-year study of this problem included babies with Down syndrome who were born in the Cape Peninsula hospitals, referred to the Department of Human Genetics, University of Cape Town, and proved chromosomally to have trisomy-21 [4].

High impact information on Genetics, Medical

• Human genetics. Testing telomerase [5].
• Medical genetics. Crystal-clear chloride channels [6].
• Human genetics. Silence speaks in spectrin [7].
• Here, we examine human genetics, murine gene targeting and cell biology to better understand the relationship between structural and signaling roles for the ECM in vascular morphogenesis and disease [8].
• At reduced stringency, a probe to the 3' HVR detects a new family of multiallelic loci that will be of value in the study of human genetics [9].

Biological context of Genetics, Medical

• Surprisingly, the 17q breakpoint maps approximately 1.3 Mb downstream of SOX9, making this the longest-range position effect found in the field of human genetics and the first report of a patient with CD with the chromosome breakpoint mapping 3' of SOX9 [10].
• In this review, we summarize and update information concerning drug-metabolizing genotypes with emphasis on CYP2D6 genotyping techniques that can be applied by the clinical laboratory for linking human genetics to therapeutic management [11].
• Our studies provide in vivo evidence indicating that Trp53-dependent apoptosis does not play a crucial role in motoneuron degeneration in SMA-like mice.European Journal of Human Genetics (2006) 14, 372-375. doi:10.1038/sj.ejhg.5201556; published online 4 January 2006 [12].
• Primer on medical genomics. Part VIII: Essentials of medical genetics for the practicing physician [13].
• The association of the mouse major histocompatibility complex (H-2), lung maturation, and corticosteroid responsiveness has recently been demonstrated in congenic B10 (H-2b) and B10.A (H-2a) mice (Hu et al.: American Journal of Medical Genetics 35:126-131, 1990) [14].

Anatomical context of Genetics, Medical

• Loss of function mutations in FGF10 were recently described in aplasia of the lacrimal and salivary glands [ALSG (MIM 180920; MIM 103420)] (Entesarian et al., Nat Genet 2005: 37: 125-127, Milunsky et al., American College of Medical Genetics Annual Meeting, Dallas, TX, 2005: A100) [15].
• The importance of the alpha 2MR/LRP for human genetics. Investigations of the receptor expression in different human blood cells [16].

Associations of Genetics, Medical with chemical compounds

• The impact of undergraduate genetic courses on the academic performance of first-year medical students in the medical genetics course at the University of Pittsburgh School of Medicine was evaluated over a period of 9 years [17].
• This indicates that the presence of histidine could affect complex I activity in patients with schizophrenia.European Journal of Human Genetics (2006) 14, 520-528. doi:10.1038/sj.ejhg.5201606; published online 15 March 2006 [18].
• American College of Medical Genetics statement on folic acid: fortification and supplementation [19].
• Evidence from animal self-administration and human genetics studies suggests that the serotonin(1B) (5-HT(1B)) receptor may be involved in modulating responses to cocaine or alcohol [20].
• The relevant bodies which embody reproductive issues and concerns are for example the National Health Service (NHS) and the regulatory bodies such as the Human Fertilisation and Embryology Authority (HFEA) (Human Fertilisation and Embryology Authority Act, 1990) and the Human Genetics Advisory Commission (HGAC) [21].

Gene context of Genetics, Medical

• However, CXCR variations identified in this study will provide valuable information for the future studies in medical sciences as well as in human genetics [22].
• These findings suggest that the combined effects of the polymorphisms in the GRIN1 and GRIN2B genes might be involved in the etiology of schizophrenia.European Journal of Human Genetics (2005) 13, 807-814. doi:10.1038/sj.ejhg.5201418 Published online 20 April 2005 [23].
• The identification of the cystic fibrosis transmembrane conductance regulator gene (CFTR) in 1989 represents a landmark accomplishment in human genetics [24].
• The identification of the first de novo mutations underscores beyond any doubt the involvement of the ATP1A2 gene in FHM2.European Journal of Human Genetics (2006) 14, 555-560. doi:10.1038/sj.ejhg.5201607; published online 15 March 2006 [25].
• Tuberous sclerosis complex genes: from flies to human genetics [26].

Analytical, diagnostic and therapeutic context of Genetics, Medical

• One hundred and twenty nine DMD and BMD carriers, aged 18-60 years, were traced through the files of the central register kept at the department of Human Genetics in Leiden. Investigations included full medical history, physical examination, ECG and two-dimensional and M-mode echocardiographic examination [27].
• From a retrospective study in Medical Genetics Unit, Department of Pediatrics, Siriraj Hospital Faculty of Medicine, Mahidol University in Bangkok (1983-1988), the estimated pediatric patients with clinically suspected IEM are approximately 2-4% of total annual pediatrics admission of 5,000 or more [28].
• This review focuses on the evidence from animal studies and human genetics that suggest that 5-HT1B receptors may be involved in the mechanism of action of antidepressants and may become important targets of drug therapy in the future [29].
• Two models for human genetics: blood grouping and psychiatry in Germany between the World Wars [30].
• Our results show that the flow chart DQA1 genotyping is a simple, fast, and accurate system which, in the future, may be considered as an alternative method for routine individual identification in forensic casework, and for paternity testing and tissue typing in medical genetics [31].

References