Search

for
Search:

Sort by

Research

990-1000 / 1000+ results

Expression Patterns of Glial Cell Line-Derived Neurotrophic Factor, Neurturin, Their Cognate Receptors GFRα-1, GFRα-2, and Common Signal Transduction Element c-Ret in Human Skin Hair Follicles

research Expression patterns of the glial cell line–derived neurotrophic factor, neurturin, their cognate receptors GFRα-1, GFRα-2, and a common signal transduction element c-Ret in the human skin hair follicles

18 citations , January 2008 in “Journal of The American Academy of Dermatology”

Certain proteins and their receptors are more active during the growth phase of human hair and could be targeted to treat hair disorders.

research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome

11 citations , December 2017 in “Orphanet Journal of Rare Diseases”

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia

2 citations , July 2015 in “Archives of Dermatological Research”

A new gene variant in the DSP gene is linked to a unique type of hair loss.

Unexpectedly High Carrier Rates and Genotype/Phenotype Correlation: LIPH Mutations in Japanese Autosomal Recessive Woolly Hair/Hypotrichosis

research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis

September 2016 in “Journal of Dermatological Science”

Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.

research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome

January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)”

Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.

research Novel insights into the molecular mechanisms underlying generalized glucocorticoid resistance and hypersensitivity syndromes

15 citations , April 2017 in “Hormones”

Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.

Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review

research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review

March 2024 in “Frontiers in endocrinology”

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

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”

research Familial frontal fibrosing alopecia: A cross‐sectional study of 20 cases from nine families

8 citations , November 2018 in “Australasian Journal of Dermatology”

Frontal fibrosing alopecia in families shows similar signs to individual cases and may have a genetic link.

DSP c.6310delA p.(Thr2104Glnfs*12) Associates With Arrhythmogenic Cardiomyopathy, Increased Trabeculation, Curly Hair, and Palmoplantar Keratoderma

research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma

1 citations , March 2023 in “Frontiers in Cardiovascular Medicine”

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

← Previous page