19 citations
,
May 2006 in “Clinical and Experimental Dermatology” This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.
2 citations
,
May 2022 in “Research Square (Research Square)” This study demonstrates that the amino-terminally shortened KGF-1 variant with 135 residues maintains biological activity, suggesting it may serve as an alternative to the original KGF-1 for certain therapeutic applications.
4 citations
,
January 2019 in “International journal of molecular sciences” This study suggests that β-catenin plays an important role in wool follicle development in transgenic sheep by enhancing the expression of keratin protein genes.
5 citations
,
May 2023 in “Microbial Cell Factories” This study found that a newly produced version of KGF-1 with 135 residues maintained biological activity and could serve as an alternative to the standard 140-residue KGF-1.
52 citations
,
October 1999 in “Developmental Dynamics” This study found that the hairless gene in mice has a more extensive role in development than previously thought, as indicated by its expression in various tissues and associated abnormalities in hr/hr mutants.
March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
37 citations
,
October 2006 in “Archives of Biochemistry and Biophysics” This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.
33 citations
,
May 2006 in “Journal of Investigative Dermatology” This study found that high levels of parathyroid hormone-related protein expression can result in the production of shorter hair shafts, likely through effects on angiogenesis.
6 citations
,
June 2012 in “PloS one” This study identified a novel SCF mRNA splice variant in white merino sheep skin, which may play a role in hair follicle melanogenesis.
2 citations
,
July 2021 in “Genes” This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.
August 2020 in “Pakistan Journal of Zoology” This study identified a novel genetic mutation, c.429delC in the hairless gene, associated with atrichia with papular lesions in two Pakistani families.
November 2023 in “Advanced Science” A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.
48 citations
,
February 2013 in “Molecular and Cellular Endocrinology” This review discusses the presence of the StAR protein in 17 non-classical steroidogenic tissues, suggesting that advanced detection methods are needed for a complete understanding of its functions in these tissues.
28 citations
,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” This article reviews phenotypic variability linked to WNT10A nonsense mutations and does not present new research findings.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the HoxC gene cluster is crucial for the development of hair and nails in mice, with key regulation by two mammalian-specific enhancers.
73 citations
,
June 2010 in “PLoS Genetics” This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.
13 citations
,
March 2020 in “Genes” This study found that FGF5-/- rabbits exhibited a significant long hair phenotype by prolonging the anagen phase, suggesting FGF5 acts as a negative regulator of hair growth.
6 citations
,
October 2022 in “International Journal of Molecular Sciences” This study found that Fgf5 mutant mice exhibited longer hair, particularly in males, likely due to a prolonged anagen phase in the hair cycle.
May 2018 in “The journal of immunology/The Journal of immunology” This study identified that patients with compound heterozygous mutations in FOXN1 exhibited severe T-cell lymphopenia but retained normal hair and nail development, indicating a distinct clinical phenotype from classic FOXN1 cases.
22 citations
,
July 2016 in “Cellular and Molecular Life Sciences” Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.
37 citations
,
December 2020 in “PLANT PHYSIOLOGY” In this study, the researchers identified a temperature-sensitive mutant in Arabidopsis thaliana, showing disrupted root hair formation and altered responses to plant hormone treatments at elevated temperatures.
23 citations
,
June 2010 in “Journal of Investigative Dermatology” This study found that the hair interior defect in AKR/J mice is linked to a mutation in the Soat1 gene, which disrupts SOAT1 protein expression and affects lipid metabolism critical for normal hair formation.
58 citations
,
February 2016 in “Scientific reports” This study found that dual inhibition of BACE1 and BACE2 in mice affects melanosome maturation and causes dose-dependent hair depigmentation without altering retinal morphology.
39 citations
,
January 2019 in “Cells” This review discusses the molecular mechanisms of Hutchinson-Gilford progeria syndrome and evaluates current research trends, available mouse models, and prospects for developing therapies, but reports no new clinical findings.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a mutation in the CST6 gene linked to a rare syndrome with symptoms affecting hair and skin, revealing cystatin M/E's role in maintaining epidermal homeostasis and hair follicle development.
25 citations
,
December 2018 in “Human Molecular Genetics” This study found that the PSEN1-P242LfsX11 mutation in hidradenitis suppurativa influences cytokine and chemokine expression in macrophages, potentially affecting inflammatory responses.
18 citations
,
October 2021 in “Frontiers in Physiology” This review summarizes recent research on the molecular properties and functions of L-PGDS and PGD2, but reports no new findings, highlighting their pathophysiological roles and guiding future studies.
1 citations
,
August 2019 in “Journal of pediatric & adolescent gynecology” This report describes a novel AR gene mutation in a female patient, contributing to androgen insensitivity syndrome, and emphasizes its potential impact on genetic counseling.
47 citations
,
June 2017 in “The FEBS journal” This study found that CRISPR/Cas9-induced loss-of-function mutations in the FGF5 gene significantly increased wool length and yield in genetically modified Chinese Merino sheep compared to wild-type controls.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.