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CYP21A2 Genotypes Do Not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia

research CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia

14 citations , January 2013 in “Hormone and Metabolic Research”

The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.

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.

Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements

30 citations , June 2016 in “Journal of Human Genetics”

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

research A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin

4 citations , October 2003 in “Annales de Génétique”

A specific gene mutation causes different hair defects in Indian monilethrix families.

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 Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants

13 citations , June 2024 in “Frontiers in Genetics”

About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.

Adrenal 21-Hydroxylase Gene Mutations in Slovenian Hyperandrogenic Women: Evaluation of Corticotrophin Stimulation and HLA Polymorphisms in Screening for Carrier Status

research Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status

19 citations , August 1999 in “European journal of endocrinology”

The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.

research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome

14 citations , March 2018 in “The American journal of case reports”

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita

22 citations , February 2012 in “Journal of Investigative Dermatology”

A specific gene mutation causes severe skin and nail issues and hair loss.

Multi-Ancestry Tandem Repeat Association Study of Hair Color Using Exome-Wide Sequencing

research Multi-ancestry tandem repeat association study of hair colour using exome-wide sequencing

February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)”

Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.

research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix

20 citations , December 1999 in “Journal of Investigative Dermatology”

Mutations in the hHb6 gene cause the hair disorder monilethrix.

research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene

8 citations , March 2011 in “Endocrine”

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

research Genetic Association Between Polycystic Ovary Syndrome and the APOA5 rs662799 and PLIN1 rs894160 Metabolic Variants in the Western Saudi Population: A Case-Control Study

January 2024 in “Biomarker Insights”

Certain genetic variants may increase the risk of developing PCOS.

research Two familial cases of Olmsted-like syndrome with a G573V mutation of theTRPV3gene

12 citations , June 2016 in “Clinical and experimental dermatology”

A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.

research Identification and expression of the target gene SLC24A2 of oar-miR-377 and its novel SNPs effects on wool traits in sheep

March 2024 in “Research Square (Research Square)”

The TT genotype of a specific SNP in sheep is linked to better wool quality.

research Detection of Type IIHair Keratin Gene in a Family with Monilethrix

January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine”

A unique gene mutation was found in a family with monilethrix.

research Identification de 2 polymorphismes génétiques (SNPs) associés aux spondylarthropathies (SpA) dans le locus SPA2 (9q31-34)

October 2007 in “Revue du Rhumatisme”

research Compound Heterozygous Mutations in Forkhead Box N1 (FOXN1) Lead to a Severe Immunodeficiency but Normal Hair and Nail Development in Patients

May 2018 in “The journal of immunology/The Journal of immunology”

Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.

Study of MC1R and SLC24A5 Gene Diversity in Global Populations: Evaluation of Evolutionary and Environmental Aspects

research Estudo da diversidade dos genes MC1R e SLC24A5 em populações globais: avaliação de aspectos evolutivos e ambientais

April 2017

SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.

research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine

5 citations , January 2011 in “Archives de Pédiatrie”

A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.

research Association between EGF and EGFR Gene Polymorphisms and Susceptibility to Alopecia Areata in the Korean Population

2 citations , January 2019 in “Annals of Dermatology”

Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.

research Identificación de la variación molecular y genética subyacente a las enfermedades de la piel

January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)”

Non-coding RNAs may be key in diagnosing and treating rare skin disorders.

research Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families

40 citations , December 2010 in “Human Genetics”

FGFR2 Is Associated With Hair Thickness In Asian Populations

research Correlation Analysis of CXCL10, FOS, HOXC13, and WNT4 Gene Polymorphisms with Key Economic Traits—Initial Population Screening for Jiangnan Cashmere Goats

September 2025 in “Genes”

Certain gene variations in Jiangnan cashmere goats are linked to important traits like birth weight and fiber quality, useful for breeding.

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