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Glossary Genetics

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”

This study identified three novel genetic loci associated with PCOS and found similar genetic architecture across different diagnostic criteria, with evidence suggesting genetic links between PCOS and various metabolic and psychological traits.

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

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

This abstract reviews the characteristics and health risks associated with polycystic ovary syndrome and does not report new findings, highlighting the syndrome's multifactorial nature.

Fetal Programming of Polycystic Ovary Syndrome by Androgen Excess: Evidence from Experimental, Clinical, and Genetic Association Studies

research Fetal Programming of Polycystic Ovary Syndrome by Androgen Excess: Evidence from Experimental, Clinical, and Genetic Association Studies

253 citations , March 2006 in “The Journal of Clinical Endocrinology and Metabolism”

This review discusses the hypothesis that polycystic ovary syndrome may originate in fetal life due to prenatal androgen exposure, but reports no new clinical results.

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 Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH

194 citations , November 2006 in “Science”

This study identified a gene mutation in the LIPH gene associated with inherited hair loss and hair growth defects in certain populations, suggesting lipase H plays a role in hair development.

research Genetic Basis of Male Pattern Baldness

191 citations , December 2003 in “Journal of Investigative Dermatology”

Male pattern baldness is largely genetic, linked to the androgen receptor gene, and may relate to certain health issues.

research Generic Development of Topical Dermatologic Products: Formulation Development, Process Development, and Testing of Topical Dermatologic Products

188 citations , October 2012 in “The AAPS Journal”

This review discusses strategies for developing semi-solid topical generic products to match the quality of reference-listed drugs, using concepts like quality by design and reverse-engineering, but reports no new results.

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

179 citations , July 2005 in “Human Reproduction Update”

This review discusses the genetic basis and familial patterns of polycystic ovary syndrome, noting a strong familial component but inconclusive genetic patterns; it reports no new empirical findings.

research Genetic Analysis of Male Pattern Baldness and the 5α-Reductase Genes

169 citations , June 1998 in “Journal of Investigative Dermatology”

This study found no significant genetic association between the 5α-reductase enzyme genes and male pattern baldness, suggesting a polygenic etiology rather than simple inheritance.

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”

This article compares two rare genetic diseases, vitamin D-dependent rickets type 1 and type 2, focusing on their similar presentations of hypocalcemia and rickets in infancy, but reports no new clinical results.

research Genetic prediction of male pattern baldness

133 citations , February 2017 in “PLoS Genetics”

In this study, researchers used genetic data from over 52,000 men to identify over 250 genetic loci associated with severe hair loss and developed a predictive algorithm for determining hair loss risk.

research Genetic architecture of mouse skin inflammation and tumour susceptibility

133 citations , January 2009 in “Nature”

This study identified gene expression patterns in a mouse model that may influence tumor susceptibility and tissue functions related to inflammation and cell proliferation, highlighting Lgr5 and the vitamin D receptor as key regulators.

research Genetically Altered Expression of Spermidine/Spermine N1-Acetyltransferase Affects Fat Metabolism in Mice via Acetyl-CoA

128 citations , December 2006 in “Journal of Biological Chemistry”

This study found that overexpression of the enzyme spermidine/spermine N1-acetyltransferase in mice was associated with increased fat oxidation and a leaner phenotype, while knock-out mice exhibited increased fat accumulation.

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”

This study found that feather patterning is primarily self-organizing and dynamic, relying on both genetic and epigenetic controls, with implications for similar processes like fingerprints and pigmentation.

research Genetic basis of skin appendage development

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

This article reviews the similarities in early development processes of hair follicles, teeth, and mammary glands and reports no new experimental findings.

research Genetically null mice reveal a central role for epidermal growth factor receptor in the differentiation of the hair follicle and normal hair development.

107 citations , June 1997 in “PubMed”

In this study, disrupting the epidermal growth factor receptor in mice led to abnormal hair and skin development, characterized by disorganized hair follicles and systemic disease, providing a model for understanding EGFR's role in skin biology.

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”

This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.

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”

This review explores the current understanding of genetic and hormonal influences on male androgenetic alopecia and female pattern hair loss, providing guidance for clinicians but reports no new results.

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”

This study found that trichoscopy can diagnose genetic hair shaft abnormalities without plucking or cutting hair, by visualizing characteristic features in a single session.

research Genetic interplays between Msx2 and Foxn1 are required for Notch1 expression and hair shaft differentiation

67 citations , December 2008 in “Developmental Biology”

This study found that the transcription factors Msx2 and Foxn1 are crucial for maintaining Notch1 expression in the hair follicle matrix, which is necessary for proper hair differentiation.

research Genetics of Inherited Ichthyoses and Related Diseases

66 citations , January 2020 in “Acta Dermato Venereologica”

This article reviews genetic advances in resolving inherited ichthyoses using next generation sequencing and notes that new sequencing methods may clarify unknown types in the future.

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

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

This review summarizes the current genetic research on alopecia areata, including potential new therapeutic strategies, but reports no new clinical findings.

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

58 citations , December 2018 in “Nature Communications”

This study found that male pattern baldness in European males is strongly heritable and associated with genetic markers linked to earlier puberty, bone density, and pancreatic function.

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

53 citations , January 2011 in “Diabetes”

The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.

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”

This study found associations between genetic predictors of increased testosterone and cardiovascular risk factors, but the implications for testosterone supplementation are unclear due to uncertainties in genetic variant functions.