9 citations
,
October 2022 in “Journal of Molecular Neuroscience” This study reports a novel LSS gene mutation in an Egyptian family with alopecia intellectual disability syndrome 4, expanding the known clinical and genetic features of the condition.
18 citations
,
March 2015 in “Journal of Endocrinological Investigation” This study found that ZP4 expression was highest among PCOS patients with regular menstrual cycles, which may be linked to mature follicle presence, but no correlation with clinical indices was observed.
13 citations
,
June 2018 in “Journal of histochemistry and cytochemistry/The journal of histochemistry and cytochemistry” This study found that the expression of laminin-511 and -332 was significantly increased in psoriasis skin lesions and may influence keratinocyte proliferation and apoptosis, suggesting a previously overlooked role in the disease's pathogenesis.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.
24 citations
,
January 2018 in “Development” This study found that Frizzled genes Fzd3 and Fzd6 are redundantly involved in controlling hair follicle polarity in mice, but operate through distinct mechanisms, highlighting their complex role in hair orientation.
May 2015 in “Journal of The American Academy of Dermatology” Mycophenolate mofetil may improve symptoms and stop hair loss in Lichen planopilaris, but more research is needed.
11 citations
,
January 2018 in “Jaypee's international journal of clinical pediatric dentistry” This report describes the clinical presentation of Papillon-Lefèvre syndrome in two brothers and reviews the related literature, without providing new clinical outcomes.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers reported that disrupting the RPGRIP1L gene in mice impaired desmosome function, causing skin blistering, and their findings suggest that PKCβII inhibition could help treat pemphigus.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
8 citations
,
June 2004 in “Journal of Investigative Dermatology” Certain peptides can prevent hair loss in young rats caused by a cancer drug.
23 citations
,
December 2013 in “British Journal of Dermatology” This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
32 citations
,
November 2016 in “Journal of Dental Research” This review explores the role of Panx3 in skeletal formation and discusses its potential in developing new therapies for conditions like osteoarthritis, without presenting new clinical findings.
28 citations
,
December 2018 in “Plant, cell & environment/Plant, cell and environment” This study found that the PLC2 gene plays a critical role in auxin-mediated root development in Arabidopsis, influencing root growth and PIN2 distribution.
28 citations
,
January 2015 in “Journal of Cell Science” In this study, PINCH-1 gene loss in mouse epidermis led to detachment from the basement membrane, thickened skin, and hair loss, with findings suggesting PINCH-1 plays a role in keratinocyte adhesion through both ILK and EPLIN pathways.
January 2026 in “Burns & Trauma” This study reported that NLRP3 plays complex roles in wound healing by initially promoting inflammation and delaying repair, but later enhancing structural restoration through distinct signaling pathways, highlighting its potential as a therapeutic target for controlling inflammation and regeneration phases.
20 citations
,
August 2003 in “Clinical and Experimental Dermatology” In this study, a novel E583V missense mutation in the hairless gene was identified in an Italian family with atrichia with papular lesions, reinforcing the significance of zinc-finger and LXXLL domains in this condition.
14 citations
,
May 2016 in “International Journal of Molecular Sciences” This study showed that knocking out the Ppp2ca gene in the epidermis of mice led to significant hair loss and disrupted hair follicle morphogenesis and regeneration.
71 citations
,
October 2017 in “Journal of Investigative Dermatology” PPAR-γ agonists like pioglitazone may help manage lichen planopilaris but don't fully reverse scarring.
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.
1 citations
,
October 2022 in “Biomedicines” This study found that Prdm1 is crucial for whisker development in mice, affecting multiple signaling pathways and possibly playing a role in primates' evolutionary loss of vibrissae.
80 citations
,
April 2011 in “Plant physiology” This study suggests that the GPX-PDE1 and GPX-PDE2 genes in white lupin enhance root hair development and contribute to Pi limitation acclimation by facilitating glycerophosphodiester degradation.
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.
25 citations
,
October 2007 in “Developmental biology” In this study, transgenic mice altered to express a Clim-inhibiting molecule under a keratin promoter showed corneal degradation and hair follicle failure, highlighting Clim proteins' role in maintaining these tissues.
6 citations
,
September 2023 in “Experimental physiology” In this study, researchers identified the PLD-mGluR protein in primary mechanosensory terminals as the homomeric GluK2 kainate receptor, functioning purely metabotropically, which is suggested to be common to various sensory endings.
3 citations
,
January 2016 in “Dermatology online journal” This review discusses the potential relationship between lichen planus pigmentosus and frontal fibrosing alopecia, presenting a case study but reporting no new clinical findings.
93 citations
,
June 2011 in “Journal of Neuroscience” This study found that the transcription factor p63 is crucial for horizontal basal cell differentiation in the olfactory epithelium, suggesting a p63-dependent mechanism activates reserve stem cells after injury.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study utilized computational approaches to screen natural compounds targeting a non-androgen pathway involving PIEZO1 and MLCK for treating androgenetic alopecia, identifying several potential candidates for further validation but making no clinical claims.
2 citations
,
December 2013 in “Journal of dermatology” This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.
July 2025 in “Frontiers in Medicine” This study identified compound heterozygous mutations, c.1101del and c.736 T > A, in the LIPH gene responsible for causing autosomal recessive woolly hair in a child, with c.1101del being a novel frameshift mutation.
6 citations
,
August 2020 in “JCRPE” This report presents a case of familial male-limited precocious puberty with a novel LHCGR gene mutation, where a boy responded well to treatment with bicalutamide and anastrozole.