87 citations
,
March 2017 in “Journal of Clinical Investigation” In this study, researchers identified PSENEN mutations that can lead to a form of Dowling-Degos disease, characterized by follicular hyperkeratosis and an increased susceptibility to acne inversa, especially in the presence of certain trigger factors.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel G207E STING mutation causing a distinct phenotype involving alopecia, photosensitivity, and thyroid dysfunction, and suggests that common polymorphisms in TMEM173 and IFIH1 may influence disease presentation.
60 citations
,
April 1998 in “Baillière s Clinical Endocrinology and Metabolism” This article reviews the genetic mutations causing male pseudohermaphroditism from 17 beta-HSD-3 and 5 alpha-RD-2 deficiencies and reports no new clinical findings.
47 citations
,
September 2012 in “Human molecular genetics online/Human molecular genetics” This study suggests that the interaction between folliculin and plakophilin-4 (p0071) may play a role in folliculin's tumor suppressor function by regulating RhoA signaling, impacting cell migration and junction formation.
55 citations
,
April 2008 in “Clinical Genetics” This report identifies a novel mutation in the ST14 gene in a female with autosomal recessive ichthyosis with hypotrichosis, highlighting similar features to previously reported cases.
4 citations
,
August 2022 in “Cells” This study found that the lncRNA lncRNA2919 is involved in hair follicle regeneration by downregulating growth-related genes, inhibiting cell proliferation, and promoting apoptosis in rabbit dermal papilla cells.
In this study, deleting the -catenin gene in vitamin D receptor-null mice did not prevent tumor development, suggesting -catenin's predicted protective role was not observed.
101 citations
,
November 2019 in “The Plant Cell” This study found that the zinc finger protein AtZP1 inhibits root hair initiation and elongation in Arabidopsis by suppressing key transcription factors involved in root hair development.
In this study, researchers observed that oncogenic HrasG12V in single murine epidermal cells leads to an initial increase in progenitor cell renewal, but ultimately results in balanced cell fate choices that limit clone growth.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
165 citations
,
September 2001 in “Genes & development” This study found that Cutl1 mutant mice experienced retarded lung differentiation and abnormal hair follicle morphogenesis, indicating the vital role of CDP in lung development and hair follicle cell-lineage specification.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
1 citations
,
September 2020 in “Journal of dermatology” This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
January 2025 in “Dermatology Reports” This case report describes a 61-year-old Italian man with a rare, localized variant of junctional epidermolysis bullosa linked to the R795X mutation in the COL17A1 gene, highlighting the importance of precise diagnosis for effective management of rare genetic disorders.
7 citations
,
December 2015 in “International Journal of Dermatology” In this study, researchers identified a novel and two previously reported pathogenic mutations in the HR gene associated with atrichia with papular lesions in five Pakistani families.
24 citations
,
January 2023 in “Cancer Research” This study suggests that activating AMPK to phosphorylate ZDHHC13 may enhance MC1R function and reduce melanoma risk in individuals with red hair.
July 2025 in “Journal of Investigative Dermatology” IL-17 inhibitors are more effective than methotrexate in preventing psoriatic arthritis in psoriasis patients.
4 citations
,
May 2022 in “Genes & Diseases”
11 citations
,
June 2017 in “Journal of cell science” In this study, researchers found that AGD1 is crucial for membrane recruitment during root hair development in Arabidopsis thaliana, with its pleckstrin homology domain essential for targeting specific plasma membrane regions.
5 citations
,
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.
56 citations
,
December 2011 in “The Plant Journal” AGD1 is important for root hair development in Arabidopsis, working with phosphoinositide signaling and the actin cytoskeleton.
32 citations
,
February 2019 in “eLife” This study identified key cells and pathways needed for the development of touch receptor patterns in mouse skin, notably that certain keratinocytes are crucial for innervation patterns, while Merkel cells and BMP signaling have distinct roles.
8 citations
,
June 2001 in “Journal of Biological Chemistry” This study found that the truncated hHb1-DeltaN transcript in breast cancer cells is produced by a cryptic intron promoter and responds to DNA demethylation, potentially altering cancer cell adhesion.
109 citations
,
February 2018 in “CB/Current biology” This study concluded that the receptor-like kinase ERULUS, regulated by auxin, is crucial for modulating cell wall composition and pectin dynamics during root hair growth in Arabidopsis.
3 citations
,
May 2025 in “Plant Cell & Environment” This study found that in Arabidopsis, the CLE14 peptide regulates root hair growth by promoting elongation, an effect that requires CLV2 and CRN proteins and involves ethylene signalling along with hydrogen peroxide and nitric oxide pathways.
1 citations
,
December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
April 2023 in “Journal of Investigative Dermatology” RNase L suppresses regeneration in mammals.
1 citations
,
November 2023 in “Rice” This study found that PRX102, a peroxidase with a unique polar localization pattern, plays a role in root hair growth by aiding the transport of materials to the tips of growing root hairs.
40 citations
,
December 2010 in “Human Genetics”