Search

for
Search:

Research

5 / 1000+ results

research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

15 citations , February 2014 in “PloS one”

This study identified two prevalent and one newly proposed founder LIPH mutations in Japanese patients with autosomal recessive woolly hair/hypotrichosis and associated these mutations with different severities of hair loss.

research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy

52 citations , November 2003 in “Journal of Investigative Dermatology”

In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.

research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes

16 citations , July 2021 in “American Journal of Medical Genetics Part A”

This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.

Identification of Factors Contributing to Phenotypic Divergence via Quantitative Image Analyses of Autosomal Recessive Woolly Hair/Hypotrichosis with Homozygous c.736T>A LIPH Mutation

research Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>ALIPHmutation

12 citations , July 2016 in “British journal of dermatology/British journal of dermatology, Supplement”

This study observed phenotypic diversity in hair loss among Japanese individuals homozygous for the LIPH c.736T>A mutation and suggests that differences in hair thickness may contribute to varying severities.

research Distinct genotype-phenotype patterns in non-syndromic hereditary hypotrichosis: a multicenter Chinese cohort

September 2026 in “British Journal of Dermatology”

This study identified 11 genes associated with non-syndromic hereditary hypotrichosis in a Chinese cohort and proposed a preliminary framework for phenotype-driven candidate-gene prioritization to aid clinical evaluation.

View more "hypotrichosis phenotype" in research →

Community Join

5 / 1000+ results

community Genuine question about VDPHL01's long term safety that I haven't seen discussed here

in Research/Science 28 upvotes 4 months ago

Concerns about the long-term safety of VDPHL01, an extended-release minoxidil, due to potential risks similar to Cantu syndrome, were raised, highlighting the lack of monitoring for chronic connective tissue changes. The conversation suggests that while the treatment may improve hair growth, it could lead to issues not detected in short-term trials.

community Prolactin the Cause of Hair Loss? ABS-201 the Cure?

29 upvotes 2 months ago

Prolactin may contribute to hair loss, but targeting its receptor won't cure androgenetic alopecia. ABS-201 could be a useful alternative or adjuvant therapy, similar to JAK inhibitors, but not more effective than HMI-115.

View more "hypotrichosis phenotype" in community →

Learn

— no results

Try a deeper search in learn →

Experts

— no results

Try a deeper search in experts →

Clinics

— no results

Try a deeper search in clinics →

Search

for
Search:

Research

research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy

research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes

research Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>ALIPHmutation

research Distinct genotype-phenotype patterns in non-syndromic hereditary hypotrichosis: a multicenter Chinese cohort

Community Join

community Genuine question about VDPHL01's long term safety that I haven't seen discussed here

community Prolactin the Cause of Hair Loss? ABS-201 the Cure?

community Everything you ever wanted to know about Pelage Pharma's PP405: how it works and what to expect

community 5MG MIN Crazy hypertrichosis on eyebrows and forehead emerging? How to manage?

community Would topical minoxidil + tretinoin cause less(or none) hypertrichosis compared to oral minox?

Learn

Experts

Clinics