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Case of Autosomal Recessive Woolly Hair/Hypotrichosis with Compound Heterozygous Mutations in the LIPH Gene at c.742C > A and c.614A > G: The First Japanese Case

research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case

February 2023 in “Journal of dermatology”

The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.

Stabilization of Beta-Catenin Promotes Melanocyte Specification at the Expense of the Schwann Cell Lineage

research Stabilization of β-catenin promotes melanocyte specification at the expense of the Schwann cell lineage

June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)”

Activating β-catenin increases melanocytes and decreases Schwann cells.

research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II

18 citations , November 2009 in “Calcified tissue international”

A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

research Expression of a truncated form of hHb1 hair keratin in human breast carcinomas

14 citations , December 1998 in “British Journal of Cancer”

Truncated hHb1 keratin may play a role in breast cancer cell transformation.

research 448 Physiological function of krox20 (Egr2) in epithelial stem cells

July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

Krox20 is important for maintaining stem cells in the skin and affects hair growth and color.

research Mutations in Homocysteine Metabolism Genes Increase Keratin N-Homocysteinylation and Damage in Mice

5 citations , September 2018 in “International journal of genomics”

Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.

research WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation

96 citations , June 2017 in “Nature Communications”

A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.

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.

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 A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle

2 citations , July 2021 in “Genes”

A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.

research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants

March 2026 in “Journal of Investigative Dermatology”

research Cardiac biopsy in myocarditis

2 citations , October 1990 in “The Lancet”

Some people have a genetic variation that makes them less effective at breaking down drugs.

research Association study between the -866G/A polymorphism in the promoter of uncoupling protein-2 gene and polycystic ovary syndrome

1 citations , May 2011 in “Molecular Medicine Reports”

The study investigated the association between the -866G/A polymorphism in the promoter of the uncoupling protein-2 (UCP2) gene and polycystic ovary syndrome (PCOS), a condition linked to obesity and insulin resistance. The research involved 277 PCOS patients and 152 healthy controls, using genotyping methods to analyze the UCP2 polymorphism. The results indicated no significant association between the -866G/A polymorphism and PCOS, with a P-value of 0.7168, suggesting that this genetic variation did not contribute to the pathogenesis of PCOS.

research CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS)

9 citations , February 2013 in “Hormone and Metabolic Research”

Mutations in the CYP21A2 gene are not a major factor in causing PCOS.

research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome

11 citations , January 2021 in “British Journal of Dermatology”

Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.

research Androgenic alopecia associated with the HSD3B1 (1245a>c) in overweight women with polycystic ovarian syndrome

September 2018 in “Fertility and Sterility”

The HSD3B1 variant increases hair loss risk in overweight women with PCOS.

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

125 citations , August 2003 in “Development”

Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.

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 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation

February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology”

A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.

research The effect of GGC and CAG repeat polymorphisms on the androgen receptor gene in response to finasteride therapy in men with androgenetic alopecia

1 citations , January 2019 in “Journal of Research in Medical Sciences”

Fewer GGC sequences in the androgen receptor gene improve finasteride treatment for hair loss.

research A mutation in MAP2 is associated with prenatal hair follicle density

11 citations , November 2019 in “The FASEB Journal”

A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.

research Mutations in the Serum/Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (fz) Hair Phenotype

11 citations , October 2007 in “Journal of Investigative Dermatology”

Mutations in the Sgk3 gene cause fuzzy hair in mice.

research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency

25 citations , December 2005 in “Molecular Genetics and Metabolism”

Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.

research Disorganization of Transcriptional Regulation and Alteration of Keratin Family Gene Expression in Hairy Ear Mice

January 2026 in “MDPI (MDPI AG)”

The hairy ear mutation in mice is linked to changes in gene expression affecting hair growth.

research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report

May 2025 in “Dermatology Reports”

A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.

research Genetic variants in AR and SHBG and resistance to hormonal castration in prostate cancer

6 citations , February 2013 in “Medical Oncology”

Certain genetic variants increase the risk of resistance to hormone therapy in prostate cancer patients.

research Deletion of vitamin D receptor with calcium sensing receptor in keratinocytes promotes epidermal tumorigenesis by limiting dna repair and oxidative stress response genes

March 2026 in “The Journal of Steroid Biochemistry and Molecular Biology”

Deleting vitamin D and calcium receptors in skin cells increases skin cancer risk by reducing DNA repair and stress response.

research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene

13 citations , January 2018 in “Yonsei Medical Journal”

A specific gene mutation causes Olmsted syndrome.

Optimization and Characterization of a Focal Dermal Hypoplasia Mouse Model to Test Potential Treatments

research 1465 Optimization/characterization of a Focal Dermal Hypoplasia mouse model to test potential treatments

April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology”

Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.

research Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience

1 citations , October 2023 in “Frontiers in Oncology”

Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.

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