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Glossary Phenotype A

observable traits resulting from gene-environment interactions

Phenotype A refers to the observable physical or biochemical characteristics of an organism, as determined by both genetic makeup and environmental influences. In the context of hair and alopecia, it could describe specific traits such as hair color, texture, or the presence of hair loss, which result from the interaction of genes and external factors.

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research Phenotype and metabolic profile of South Asian women with polycystic ovary syndrome (PCOS): results of a large database from a specialist Endocrine Clinic

111 citations , November 2010 in “Human Reproduction”

This study found that young indigenous South Asian women with polycystic ovary syndrome are more likely to be centrally obese and have metabolic syndrome, particularly with increasing age, higher BMI, and acanthosis nigricans.

research Prevalence, Phenotypes, and Comorbidities of Polycystic Ovary Syndrome Among Indian Women

37 citations , October 2024 in “JAMA Network Open”

This study found that among reproductive-age women across India, there was a high prevalence of PCOS, with phenotype C being predominant and most women exhibiting metabolic abnormalities, highlighting the importance of integrating PCOS management into national health strategies.

research Metabolic syndrome and metabolic risk profile according to polycystic ovary syndrome phenotype

32 citations , April 2016 in “Journal of Obstetrics and Gynaecology Research”

This study found that women with polycystic ovary syndrome phenotypes A and B had the highest prevalence of metabolic syndrome, and that the visceral adiposity index may help predict metabolic risk.

The Prevalence of Polycystic Ovary Syndrome, Its Phenotypes and Cardio-Metabolic Features in a Community Sample of Iranian Population: Tehran Lipid and Glucose Study

research The Prevalence of Polycystic Ovary Syndrome, Its Phenotypes and Cardio-Metabolic Features in a Community Sample of Iranian Population: Tehran Lipid and Glucose Study

9 citations , March 2022 in “Frontiers in Endocrinology”

This study found that PCOS is common among Iranian women, with phenotypes involving hyperandrogenism exhibiting worse lipid profiles and higher rates of metabolic syndrome compared to healthy women.

research Effects of the prenatal and postnatal nurturing environment on the phenotype and gut microbiota of mice with polycystic ovary syndrome induced by prenatal androgen exposure: a cross-fostering study

3 citations , March 2024 in “Frontiers in Cell and Developmental Biology”

This study observed that both prenatal androgen exposure and postnatal early-life environment influence the development of PCOS-like phenotypes and changes in the gut microbiota in prenatally androgenized offspring.

research Characteristics of phenotypes (clinical variants) of polycystic ovary syndrome in women of reproductive age

2 citations , April 2021 in “Reproductive health of woman”

This study found that among women with PCOS, the most common clinical symptoms were menstrual dysfunction, infertility, acne, and hirsutism, with the non-androgenic phenotype being the most frequently identified.

research Gene expression of FOXA1 and CCL2 in different phenotypes of infertile women with polycystic ovarian syndrome

December 2025 in “Egyptian Journal of Basic and Applied Sciences”

This study observed that FOXA1 and CCL2 gene expression levels were significantly elevated in women with different PCOS phenotypes compared to healthy controls, indicating phenotype-specific molecular variations which could inform personalized treatment strategies for infertility in PCOS.

research Phenotype of Normal Hairline Maturation

19 citations , August 2013 in “Facial Plastic Surgery Clinics of North America”

This article discusses the evolution and variation of hairlines in men and women across different ages, introducing a modeling system to standardize the anatomical description of hairlines, without reporting new experimental findings.

research Towards Defining the Pathogenesis of the Hairless Phenotype

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

This study found that mutations in the hairless gene in mice disrupt hair follicle integrity during catagen, leading to baldness due to disintegrating epithelial structures and loss of normal dermal papilla.

5-Alpha-Reductase Type 2 Deficiency: Is There a Genotype-Phenotype Correlation? A Review

research 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review

39 citations , April 2018 in “Hormones”

This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.

research Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia

35 citations , April 2014 in “American Journal of Medical Genetics”

The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.

research The crest phenotype in domestic chicken is caused by a 195 bp duplication in the intron of HOXC10

29 citations , January 2021 in “G3 Genes Genomes Genetics”

This study identified a 195 bp duplication in crested chickens that causes large crest feathers and can be associated with cerebral hernia in some breeds, but not all.

research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype

24 citations , May 2019 in “PLOS genetics”

This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.

Taking Advantage of Phenotype Variability in a Local Animal Genetic Resource: Identification of Genomic Regions Associated with the Hairless Phenotype in Casertana Pigs

research Taking advantage from phenotype variability in a local animal genetic resource: identification of genomic regions associated with the hairless phenotype in Casertana pigs

16 citations , April 2018 in “Animal Genetics”

This study identified two significant genomic regions potentially involved in hair development and growth in Casertana pigs, highlighting FOXN3 and ARHGEF10 as candidate genes associated with a hairless phenotype.

research The value of the free androgen index depends on the phenotype of polycystic ovary syndrome — a single-centre experience

7 citations , August 2019 in “Endokrynologia Polska”

This study reported that women with metabolic PCOS phenotype have free androgen index values approximately twice as high as those with the reproductive phenotype.

research A Genome-Wide Association Study and Machine-Learning Algorithm Analysis on the Prediction of Facial Phenotypes by Genotypes in Korean Women

5 citations , March 2022 in “Clinical Cosmetic and Investigational Dermatology”

This study proposed a model that accurately predicts skin condition using genotype information and machine learning, suggesting potential for creating customized cosmetics.

research Pseudo Pemphigus Phenotypes in Mice with Inactivated Desmoglein 3

5 citations , October 2015 in “The American journal of pathology”

This study found that a spontaneous deletion in the Dsg3 gene of mice leads to hypomorphic desmoglein 3 expression, resulting in severe immunodeficiency, cyclic hair loss, and wasting disease, without causing the blistering typical of pemphigus vulgaris.

Association of Insulin Resistance with Polycystic Ovary Syndrome Phenotypes and Patients’ Characteristics: A Cross-Sectional Study in Iran

research Association of insulin resistance with polycystic ovary syndrome phenotypes and patients’ characteristics: a cross-sectional study in Iran

1 citations , November 2023 in “Reproductive biology and endocrinology”

This study found that among Iranian women with PCOS, phenotype B displayed the highest prevalence of insulin resistance, significantly differing from other phenotypes, suggesting phenotype could guide management of PCOS-related insulin issues.

research Phenotype-Specific Lifestyle Prediction for PCOS Using Machine Learning Multi-Class Classification and SHAP Explainability

May 2026 in “International Journal of Drug Delivery Technology”

This study reports that using machine learning models, particularly XGBoost and Random Forest, can accurately predict PCOS phenotypes based on non-invasive data, with cycle length as the most significant predictor.

Evaluating Combined Therapy With Myoinositol and D-Chiro-Inositol in Infertility Management Across PCOS Phenotypes: A Comprehensive Retrospective Data Analysis

research Evaluating combined therapy with myoinositol and D-chiro-inositol in infertility management across PCOS phenotypes: a comprehensive retrospective data analysis

October 2025 in “International Journal of Reproduction Contraception Obstetrics and Gynecology”

This study found that Myoinositol and D-chiro inositol treatment improved fertility outcomes in women with PCOS, particularly in Phenotypes A and D, but larger studies are needed to confirm these results.

research Prepregnancy Phenotype and Physiological Characteristics in PCOS

January 2020

This study observed that women with PCOS had significant differences in body composition and some physiological markers compared to healthy women, which may have implications for pregnancy outcomes and long-term health risks.

research Perspectives of Alopecia behind the Regulation of Foxn1 Gene Exposes the Human Nude Phenotype

October 2018 in “InTech eBooks”

This research suggests that mouse mutants and genomics can help study hair biology and epithelial differentiation by focusing on the role of the Foxn1 gene.

Comparison of Mathematical Indices of Insulin Resistance for Clinical Application in the Four Phenotypes of Polycystic Ovarian Syndrome

research Comparison of mathematical indices of insulin resistance for clinical application in the four phenotypes of polycystic ovarian syndrome

January 2016 in “International Journal of Reproduction Contraception Obstetrics and Gynecology”

This study found that insulin resistance varies across different PCOS phenotypes, with the PCOM+MI+HA phenotype showing higher resistance than others.

A Simple Screening Approach for Assessing Community Prevalence and Phenotype of Polycystic Ovary Syndrome in a Semiurban Population in Sri Lanka

research A Simple Screening Approach for Assessing Community Prevalence and Phenotype of Polycystic Ovary Syndrome in a Semiurban Population in Sri Lanka

120 citations , June 2008 in “American Journal of Epidemiology”

This study reported a 6.3% prevalence of PCOS among women in a Sri Lankan community, with most cases presenting as oligo/amenorrhea and polycystic ovaries.

research Forkhead/winged-helix transcription factor whn regulates hair keratin gene expression: Molecular analysis of theNude skin phenotype

75 citations , April 2000 in “Developmental Dynamics”

This study suggests that the structural integrity and physical proximity of Whn's DNA binding and activation domains are crucial for hair keratin gene activation and may explain the nude phenotype.

research Pathobiology of the hairless phenotype: Dysregulation of hair follicle apoptosis and topobiology during the initiation of follicle cycling

9 citations , March 1998 in “Journal of Dermatological Science”

Improper regulation of hair follicle processes causes hairlessness.

research HuR ablation destabilizes Foxp3 mRNA and impairs regulatory T cell function, contributing to an autoimmune phenotype

1 citations , September 2025 in “Frontiers in Immunology”

In this study, researchers using a Treg-specific HuR-deficient mouse model found that the RNA-binding protein HuR is crucial for stabilizing Foxp3 mRNA, affecting Treg function and immune regulation, with HuR disruption leading to impaired Foxp3 expression and potential autoimmune dysfunction.

research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing

June 2025 in “Molecular Genetics & Genomic Medicine”

This study found that among children with 21-hydroxylase deficiency, there is a strong correlation between severe genetic variants and clinical outcomes, but the correlation weakens with milder variants, indicating the limitations of relying solely on NGS for diagnosis.

research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations

September 2022 in “Indian Journal of Paediatric Dermatology”

This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.

research Mice humanised for the EGF receptor display hypomorphic phenotypes in skin, bone and heart

125 citations , August 2003 in “Development”

In this study, mice engineered to express human EGFR showed tissue-specific growth defects and neurodegeneration rescue, but developed severe heart issues and accelerated bone cell differentiation.