Search

for
Search:

Sort by

Research

150-180 / 1000+ results

Case Report: Two Individuals With AEBP1-Related Classical-Like EDS - Further Clinical Characterisation and Description of Novel AEBP1 Variants

research Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants

1 citations , April 2023 in “Frontiers in Genetics”

The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.

research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development

2 citations , September 2024 in “Asian Journal of Andrology”

New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.

Poster Presentations SG11 KRT14 Pathogenic Or Likely Pathogenic Variants Beyond Epidermolysis Bullosa: Dermatopathia Pigmentosa Reticularis

research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis

June 2024 in “British Journal of Dermatology”

KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.

Zinc Transporter ZIP13 G289R Variant From Spondylocheirodysplastic Ehlers-Danlos Syndrome Is Associated With Abnormal Hair Quality

research Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality

February 2025 in “Journal of Investigative Dermatology”

The ZIP13 variant is linked to abnormal hair quality.

research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture

97 citations , March 2010 in “The American Journal of Human Genetics”

A mutation in the KRT74 gene causes tightly curled hair.

research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis

January 2026 in “Animal Genetics”

A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.

research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH

October 2024 in “Journal of the Endocrine Society”

Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

Functional Evaluation of Novel CYP21A2 Variants: Expanding the Genetic Basis of Non-Classic Congenital Adrenal Hyperplasia

research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH

October 2024 in “Journal of the Endocrine Society”

Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

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 Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction

16 citations , September 2015 in “International Journal of Molecular Sciences”

A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.

research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan

9 citations , July 2016 in “Genes”

Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.

research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother

January 2026 in “American Journal of Medical Genetics Part A”

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

Loose Anagen Hair Associated With Woolly Hair Caused By A Heterozygous, Intronic KRT71 Variant

research Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant

April 2025 in “Genes”

A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.

research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development

January 2025 in “Case Reports in Genetics”

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia

June 2024 in “Genes”

A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.

research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome

January 2023 in “Indian dermatology online journal”

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

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 Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss

19 citations , July 2020 in “EBioMedicine”

A gene variant increases the risk of a type of hair loss by affecting hair protein production.

research Novel associations of VPS13C with phenotype and conversion of idiopathic REM sleep behavior disorder

April 2026 in “npj Parkinson s Disease”

VPS13C variants are linked to more severe REM sleep disorder and faster progression to Parkinson's disease.

research Structural and epistatic regulatory variants cause hallmark white spotting in cattle

1 citations , November 2025 in “Science Advances”

Two gene variants cause white spots in cattle.

research Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss

September 2023 in “Nature Communications”

Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.

research Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans

234 citations , November 2009 in “American journal of human genetics”

Common variants in the Trichohyalin gene are linked to straight hair in Europeans.

research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response

5 citations , October 2021 in “American Journal of Medical Genetics Part A”

A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

research Genetic Variant of the Canine FGF5 Gene for the Hair Length Trait in the Akita: Utility for Hair Coat Variations and Welfare in Conservation Breeding

August 2025 in “Genes”

The FGF5 gene variant causes long hair in Akitas, and genetic testing is advised to manage coat length and welfare.

research Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib

July 2025 in “Frontiers in Medicine”

Baricitinib successfully regrew hair in an 8-year-old boy with alopecia totalis linked to a KRT74 gene variant.

← Previous page Next page →

Search

for
Search:

Research

research Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants

research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development

research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis

research Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality

research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture

research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis

research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH

research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH

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 Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction

research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan

research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother

research Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant

research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development

research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia

research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome

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

research Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss

research Novel associations of VPS13C with phenotype and conversion of idiopathic REM sleep behavior disorder

research Structural and epistatic regulatory variants cause hallmark white spotting in cattle

research Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss

research Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans

research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response

research Genetic Variant of the Canine FGF5 Gene for the Hair Length Trait in the Akita: Utility for Hair Coat Variations and Welfare in Conservation Breeding

research Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib

research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review

research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus

research Genetic Variants and Protective Immunity against SARS-CoV-2

research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed