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GlossaryGenetics

study of heredity and variation in living organisms

Genetics is the study of how traits and characteristics are passed down from parents to their offspring through genes. It involves understanding the structure, function, and behavior of genes, which are segments of DNA that carry the instructions for making proteins and other molecules essential for life. This field helps explain why individuals inherit certain physical features, susceptibilities to diseases, and other biological attributes.

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Large-Scale Genome-Wide Meta-Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria

research Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria

308 citations , December 2018 in “PLOS Genetics”

The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.

research Genetic, hormonal and metabolic aspects of PCOS: an update

258 citations , July 2016 in “Reproductive Biology and Endocrinology”

The document concludes that insulin resistance is key in PCOS development and early treatment is crucial to prevent complications.

research Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia

195 citations , June 2005 in “American Journal of Human Genetics”

Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.

research Genetics of polycystic ovary syndrome: searching for the way out of the labyrinth

179 citations , July 2005 in “Human Reproduction Update”

PCOS is influenced by both genes and environment, but its exact genetic cause is still unclear.

research Genetic Variation at the MC1R Locus and the Time since Loss of Human Body Hair

152 citations , January 2004 in “Current anthropology”

Humans lost body hair relatively recently in evolution.

research Genetic Disorders and Defects in Vitamin D Action

151 citations , June 2010 in “Endocrinology and metabolism clinics of North America”

Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.

research Genetic prediction of male pattern baldness

133 citations , February 2017 in “PLoS Genetics”

Genetic factors can help predict male pattern baldness risk.

research Genetic architecture of mouse skin inflammation and tumour susceptibility

133 citations , January 2009 in “Nature”

Lgr5 and the vitamin D receptor are key in controlling skin inflammation and tumor risk in mice.

research Integument pattern formation involves genetic and epigenetic controls: feather arrays simulated by digital hormone models.

112 citations , January 2004 in “The International journal of developmental biology”

Feather patterns form through genetic and epigenetic controls, with cells self-organizing into periodic patterns.

research Genetic basis of skin appendage development

111 citations , January 2007 in “Seminars in cell & developmental biology”

Hair, teeth, and mammary glands develop similarly at first but use different genes later.

research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility

97 citations , March 2002 in “Molecular and cellular biology”

Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.

research Role of genetics and sex steroid hormones in male androgenetic alopecia and female pattern hair loss: An update of what we now know

87 citations , March 2011 in “Australasian Journal of Dermatology”

Genetics and hormones play a role in male and female hair loss, but more research is needed to fully understand it.

research Androgenetic Alopecia: Identification of Four Genetic Risk Loci and Evidence for the Contribution of WNT Signaling to Its Etiology

74 citations , January 2013 in “Journal of Investigative Dermatology”

Four genetic risk spots found for hair loss, with WNT signaling involved and a link to curly hair.

research Trichoscopy in genetic hair shaft abnormalities

74 citations , July 2008 in “Journal of Dermatological Case Reports”

Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.

research Genetics of Inherited Ichthyoses and Related Diseases

66 citations , January 2020 in “Acta Dermato Venereologica”

New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.

research The genetics of alopecia areata: New approaches, new findings, new treatments

62 citations , January 2015 in “Journal of Dermatological Science”

New genetic discoveries may lead to better treatments for alopecia areata.

research Dissection of genetic variation and evidence for pleiotropy in male pattern baldness

58 citations , December 2018 in “Nature Communications”

Male pattern baldness is mostly inherited, involves many genes, and is linked to other traits like early puberty and strong bones.

research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes

53 citations , January 2011 in “Diabetes”

People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.

research Genetic predictors of testosterone and their associations with cardiovascular disease and risk factors: A Mendelian randomization investigation

50 citations , May 2018 in “International journal of cardiology”

Testosterone is linked to cardiovascular risk factors and stroke, but its exact role is unclear.

research Investigation of the male pattern baldness major genetic susceptibility loci AR/EDA2R and 20p11 in female pattern hair loss

38 citations , February 2012 in “British Journal of Dermatology”

AR/EDA2R gene linked to early-onset female hair loss, but 20p11 gene not involved.