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research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case

26 citations , June 2004 in “Clinical Genetics”

The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.

research Finding bald spots on chromosome 20p11

1 citations , February 2009 in “Clinical Genetics”

New genes linked to male pattern baldness were found on chromosome 20p11.

research The Association of Gene Expression and Single Nucleotide Polymorphism (rs 6152 SNP) in Androgen Receptor Gene with Recurrent Spontaneous Abortion (RSA) in Iraqi Women

March 2021 in “Medico-Legal Update”

The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.

research Author response: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma

February 2017

Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.

research Lipin 1 Gene Polymorphisms in Polycystic Ovary Syndrome

7 citations , March 2011 in “Hormone and Metabolic Research”

Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.

research Gene-wide association study between the aromatase gene (CYP19A1) and female pattern hair loss

77 citations , April 2009 in “British Journal of Dermatology”

Aromatase gene variation may increase female hair loss risk.

research 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia

November 2024 in “Journal of Investigative Dermatology”

Genetic changes in specific proteins contribute to hair loss in some women of African descent.

research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.

May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature”

A mutation in the KRT74 gene causes woolly hair by affecting hair texture.

research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.

May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature”

A mutation in the KRT74 gene causes woolly hair by affecting hair texture.

research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene

36 citations , January 2010 in “Journal of Pediatric Endocrinology and Metabolism”

A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.

research Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria.

9 citations , February 2002 in “PubMed”

A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.

research Expression of ΔNLef1 in mouse epidermis results in differentiation of hair follicles into squamous epidermal cysts and formation of skin tumours

297 citations , January 2002 in “Development”

Overexpression of ΔNLef1 in mouse skin leads to hair loss, cysts, and skin tumors.

research Independent DSG4 frameshift variants in cats with hair shaft dystrophy

December 2021 in “Molecular genetics and genomics”

Cats with abnormal hair had DSG4 gene changes causing hair problems.

research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity

372 citations , December 2004 in “Nature Genetics”

Genotyping Of The Rs1800440 Polymorphism In CYP1B1 Gene And The Rs9258883 Polymorphism In HLA-B Gene In A Spanish Cohort Of 223 Patients With Frontal Fibrosing Alopecia

research Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia

1 citations , September 2023 in “Acta dermato-venereologica”

Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.

research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation

11 citations , July 2010 in “European Journal of Dermatology”

The condition is linked to chromosome 12, but no mutations were found in the known genes.

research Polymorphisms and association of FAT1 gene with wool quality traits in Chinese Merino sheep

6 citations , January 2020 in “Czech Journal of Animal Science”

The FAT1 gene and its variations can help improve wool quality in Chinese Merino sheep through selective breeding.

research Deficiency of kinase suppressor of Ras1 prevents oncogenic ras signaling in mice.

114 citations , July 2003 in “PubMed”

Lack of KSR1 stops certain skin tumors in mice.

research Molecular basis of congenital atrichia in humans and mice.

15 citations , October 1999 in “PubMed”

Understanding genes and mutations can lead to new treatments for hair loss disorders.

research Mutations in Sterol O-Acyltransferase 1 (Soat1) Result in Hair Interior Defects in AKR/J Mice

23 citations , June 2010 in “Journal of Investigative Dermatology”

A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.

research Association between PITX2 polymorphism and androgenetic alopecia in the Indian population

July 2024 in “Indian Journal of Dermatology Venereology and Leprology”

Certain gene variations in PITX2 are linked to a higher risk of male pattern baldness in Indians.

research Exploiting the Keratin 17 Gene Promoter To Visualize Live Cells in Epithelial Appendages of Mice

58 citations , July 2005 in “Molecular and Cellular Biology”

A specific gene segment can make mouse skin cells glow, helping study hair growth and gene effects.

research 0748 Synergy of TP53 and non-canonical sonic hedgehog pathway in the development of complex basal cell carcinoma

July 2025 in “Journal of Investigative Dermatology”

Complex basal cell carcinomas need personalized treatment due to unique genetic mutations.

research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis

43 citations , September 2001 in “Annals of Neurology”

Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

7 citations , January 2015 in “Case reports in genetics”

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

research Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02

115 citations , March 2019 in “Nature Communications”

Frontal fibrosing alopecia is linked to four genetic areas, especially the HLA-B*07:02 allele.

Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-Associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21

research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21

98 citations , June 2001 in “Journal of biological chemistry/The Journal of biological chemistry”

A cluster of sulfur-rich hair protein genes was found on chromosome 17.

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Search

for
Search:

Research

research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case

research Finding bald spots on chromosome 20p11

research The Association of Gene Expression and Single Nucleotide Polymorphism (rs 6152 SNP) in Androgen Receptor Gene with Recurrent Spontaneous Abortion (RSA) in Iraqi Women

research Author response: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma

research Lipin 1 Gene Polymorphisms in Polycystic Ovary Syndrome

research Gene-wide association study between the aromatase gene (CYP19A1) and female pattern hair loss

research 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia

research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.

research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.

research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene

research Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria.

research Expression of ΔNLef1 in mouse epidermis results in differentiation of hair follicles into squamous epidermal cysts and formation of skin tumours

research Independent DSG4 frameshift variants in cats with hair shaft dystrophy

research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity

research Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia

research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation

research Polymorphisms and association of FAT1 gene with wool quality traits in Chinese Merino sheep

research Deficiency of kinase suppressor of Ras1 prevents oncogenic ras signaling in mice.

research Molecular basis of congenital atrichia in humans and mice.

research Mutations in Sterol O-Acyltransferase 1 (Soat1) Result in Hair Interior Defects in AKR/J Mice

research Association between PITX2 polymorphism and androgenetic alopecia in the Indian population

research Exploiting the Keratin 17 Gene Promoter To Visualize Live Cells in Epithelial Appendages of Mice

research 0748 Synergy of TP53 and non-canonical sonic hedgehog pathway in the development of complex basal cell carcinoma

research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis

research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

research Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02

research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21

research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome

research Abstract 4385: Live-imaging the interface between homeostasis and cancer initiation

research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome