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GlossaryGenes

segments of DNA that encode instructions for protein synthesis

Genes are segments of DNA that act as instructions for building and maintaining the body's cells and tissues. They determine inherited traits, such as eye color or susceptibility to certain diseases, by encoding for specific proteins that perform various functions in the body.

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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 Polymorphism of the Androgen Receptor Gene is Associated with Male Pattern Baldness

299 citations , March 2001 in “Journal of Investigative Dermatology”

Male pattern baldness is linked to specific genetic variations in the androgen receptor gene.

research Genes for intermediate filament proteins and the draft sequence of the human genome

287 citations , July 2001 in “Journal of Cell Science”

The study found 65 intermediate filament genes, including new keratins, and suggested updating keratin naming.

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.

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”

Exposure to too much androgen before birth might cause polycystic ovary syndrome later in life.

research The role of keratin proteins and their genes in the growth, structure and properties of hair

228 citations , January 1997 in “Birkhäuser Basel eBooks”

Keratin proteins and their genes are crucial for hair growth and structure.

research Selective Modulation of Hedgehog/GLI Target Gene Expression by Epidermal Growth Factor Signaling in Human Keratinocytes

226 citations , August 2006 in “Molecular and Cellular Biology”

EGF signaling affects gene expression in skin cells, influencing hair growth and potentially cancer.

research Conditional Gene Expression in the Epidermis of Transgenic Mice Using the Tetracycline-Regulated Transactivators tTA and rTA Linked to the Keratin 5 Promoter

215 citations , November 2000 in “Journal of Investigative Dermatology”

The system allows precise control of gene expression in mouse skin, useful for studying skin biology.

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”

A genetic mutation in the LIPH gene causes hair loss and growth defects.

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 Keratin gene mutations in disorders of human skin and its appendages

185 citations , December 2010 in “Archives of Biochemistry and Biophysics”

Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.

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 The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor

178 citations , October 2001 in “Genes & Development”

The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.

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

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

Male pattern baldness is likely caused by multiple genes, not just 5α-reductase genes.

Health-Related Quality of Life in Women with Polycystic Ovary Syndrome: A Comparison with the General Population Using the Polycystic Ovary Syndrome Questionnaire and the Short Form-36

research Health-related quality of life in women with polycystic ovary syndrome: A comparison with the general population using the Polycystic Ovary Syndrome Questionnaire (PCOSQ) and the Short Form-36 (SF-36)

167 citations , January 2006 in “Gynecological Endocrinology”

Women with PCOS have lower quality of life, especially in mental health and energy, and managing weight can help improve it.

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.

Generalized Pustular Psoriasis: A 29-Year Study of 63 Patients

research Generalized Pustular Psoriasis

143 citations , September 1991 in “Archives of Dermatology”

Generalized pustular psoriasis patients often need strong medication and careful treatment due to flare-ups and complications.

research Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene

139 citations , September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology”

Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.

Genetic Prediction of Male Pattern Baldness

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”

Altering SSAT affects fat metabolism and body fat in mice.

research Molecular evolution of the keratin associated protein gene family in mammals, role in the evolution of mammalian hair

119 citations , August 2008 in “BMC Evolutionary Biology”

KRTAP genes evolved early in mammals, leading to diverse hair traits.

research Gene Array Profiling and Immunomodulation Studies Define a Cell-Mediated Immune Response Underlying the Pathogenesis of Alopecia Areata in a Mouse Model and Humans

114 citations , August 2002 in “Journal of Investigative Dermatology”

Alopecia areata is caused by an immune response, and targeting immune cells might help treat it.

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 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”

EGFR is essential for normal hair development and follicle differentiation.

research Convergent Genesis of an Adult Neural Crest-Like Dermal Stem Cell from Distinct Developmental Origins

106 citations , September 2010 in “Stem cells”

Skin-derived precursors in hair follicles come from different origins but function similarly.