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GlossaryPhenotype 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: Results from a Specialist Endocrine Clinic

111 citations, November 2010 in “Human Reproduction”

South Asian women with PCOS are more likely to have metabolic issues and central obesity, and simple measures like waist size and blood pressure can help identify these risks early.

research Metabolic Syndrome and Metabolic Risk Profile According to Polycystic Ovary Syndrome Phenotype

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

Women with severe types of PCOS are more likely to have metabolic syndrome, and belly fat is a key predictor of this risk.

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

39 citations, April 2018 in “Hormones”

No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.

research Biallelic HEPHL1 Variants Impair Ferroxidase Activity and Cause an Abnormal Hair Phenotype

24 citations, May 2019 in “PLOS genetics”

Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.

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 of 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”

Researchers found two genes that may explain why some Casertana pigs don't have hair.

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”

The free androgen index varies among women with different types of PCOS.

research Prepregnancy Phenotype and Physiological Characteristics in Polycystic Ovary Syndrome

January 2020

Women with PCOS have different body composition and some metabolic differences compared to healthy women.

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

October 2018 in “InTech eBooks”

The gene Foxn1 is important for hair growth, and understanding it may lead to new alopecia treatments.

research Metabolic Risk in PCOS: Phenotype and Adiposity Impact

162 citations, January 2015 in “Trends in Endocrinology and Metabolism”

Women with PCOS face higher risks of diabetes and heart disease, and these risks increase with obesity.

research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2

98 citations, March 2019 in “Frontiers in immunology”

Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.

research Changes in the PCOS Phenotype with Age

62 citations, April 2013 in “Steroids”

PCOS symptoms change with age; younger women have higher androgen levels and less metabolic issues, while older women face more metabolic challenges despite milder PCOS symptoms.

research The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene

50 citations, February 2004 in “Genomics”

A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.

research A Splice Variant in KRT71 Is Associated with Curly Coat Phenotype of Selkirk Rex Cats

40 citations, June 2013 in “Scientific Reports”

A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.

The Phenotype of Circulating Follicular-Helper T Cells in Patients with Rheumatoid Arthritis Defines CD200 as a Potential Therapeutic Target

research The Phenotype of Circulating Follicular-Helper T Cells in Patients with Rheumatoid Arthritis Defines CD200 as a Potential Therapeutic Target

32 citations, January 2012 in “Clinical & Developmental Immunology”

Targeting CD200 could be a new treatment for rheumatoid arthritis.

Morphogenesis and Maintenance of the 3D Thymic Medulla and Prevention of Nude Skin Phenotype Require FoxN1 in Pre- and Post-Natal K14 Epithelium

research Morphogenesis and Maintenance of the 3D Thymic Medulla and Prevention of Nude Skin Phenotype Require FoxN1 in Pre- and Post-Natal K14 Epithelium

21 citations, November 2010 in “Journal of molecular medicine”

FoxN1 gene is essential for proper thymus structure and preventing hair loss.

research The 'Bald' Phenotype (Androgenetic Alopecia) Is Caused by the High Glycemic, High Cholesterol, and Low Mineral 'Western Diet'

7 citations, June 2021 in “Trends in Food Science and Technology”

Western diet may cause male pattern baldness; low glycemic diet with magnesium could help.

research Expanding The Phenotype Of Hyper-IgE Syndrome: Heterozygous Variant In IL6ST With Elevated Serum IgE And Isolated Abscesses

January 2024 in “Genetics in Medicine Open”

A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.

research Expanded T Cells Under Lymphopenic Condition Exhibit Memory Phenotype and Infiltrate Around Hair Follicle

April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology”

T cells with memory features grow in number and gather around hair follicles when there are not enough immune cells.

research FoxN1 in K14 Promoter-Driven Epithelium Is Required for Generation and Maintenance of 3D-Thymus Medulla and Preventing Nude Phenotype in the Skin

April 2010 in “The journal of immunology/The Journal of immunology”

FoxN1 gene is crucial for proper thymus structure and normal skin appearance.

research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines

21 citations, March 2018 in “American Journal Of Pathology”

Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.

Tracing Selection Signatures in the Pig Genome Provides Evidence for Selective Pressures on a Unique Curly Hair Phenotype in Mangalitza

research Tracing Selection Signatures in the Pig Genome Provides Evidence for Selective Pressures on a Unique Curly Hair Phenotype in Mangalitza

8 citations, December 2020 in “Scientific reports”

Selective breeding caused the unique curly hair in Mangalitza pigs.

research Amelanocytic Anhidrotic Alopecia Areata-Like Phenotype After Allogeneic Hematopoietic Cell Transplant

5 citations, August 2012 in “Archives of Dermatology”

The immune system can cause permanent skin and hair whitening by attacking pigment cells.

research Analysis of the Human Diseasome Using Phenotype Similarity Between Common, Genetic, and Infectious Diseases

85 citations, June 2015 in “Scientific Reports”

The study found that diseases can be grouped by symptoms and that the accuracy of predicting disease-related genes varies with the data source.

research Loss of Epidermal Evi/Wls Results in a Phenotype Resembling Psoriasiform Dermatitis

51 citations, August 2013 in “The Journal of experimental medicine/The journal of experimental medicine”

Loss of a specific protein in skin cells causes symptoms similar to psoriasis.

research Elevated Serum Androstenedione Is Associated With a More Severe Phenotype in Women With Polycystic Ovary Syndrome

28 citations, April 2014 in “Hormones”

Higher androstenedione levels in women with PCOS are linked to more severe symptoms.

Structural and Biochemical Changes Underlying a Keratoderma-Like Phenotype in Mice Lacking Suprabasal AP1 Transcription Factor Function

research Structural and Biochemical Changes Underlying a Keratoderma-Like Phenotype in Mice Lacking Suprabasal AP1 Transcription Factor Function

17 citations, February 2015 in “Cell Death and Disease”

Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.

research Endocrinopathies and Other Disorders Inducing a Polycystic Ovary Syndrome Phenotype

7 citations, October 2012 in “S. Karger AG eBooks”

Some conditions mimic PCOS symptoms and need careful diagnosis to treat potentially serious health issues.

research Highly Upregulated Lhx2 in the Foxn1−/− Nude Mouse Phenotype Reflects a Dysregulated and Expanded Epidermal Stem Cell Niche

6 citations, May 2013 in “PloS one”

The Foxn1(-/-) nude mouse shows disrupted and expanded skin stem cell areas due to high Lhx2 levels.

research Unusual Systemic Lupus Erythematosus/Sjogren's Syndrome Phenotype in a Patient with a TNFAIP3 Gene Mutation

June 2019

A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.

research A Position Effect on TRPS1 Is Associated with Ambras Syndrome in Humans and the Koala Phenotype in Mice

60 citations, August 2008 in “Human molecular genetics online/Human molecular genetics”

A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.