June 2026 in “Frontiers in Cell and Developmental Biology” This review synthesizes the diverse roles of the transcription factor LHX2 in development, tissue maintenance, and injury repair across various organ systems, highlighting its potential therapeutic applications and significance in regenerative medicine, particularly in developmental disorders and tissue regeneration.
August 2016 in “Journal of Investigative Dermatology” This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.
1 citations
,
July 2025 in “Journal of Investigative Dermatology” 50 citations
,
September 2023 in “Biomarker Research” This review focuses on S100A6, a Ca²⁺-binding protein, detailing its role in cell functions, the regulation of its expression, and its potential as a biomarker and therapeutic target in various diseases.
This study suggests that targeting the increased expression of SIX1 in systemic sclerosis may be a viable strategy for addressing dermal fibrosis.
37 citations
,
April 2018 in “Journal of Allergy and Clinical Immunology” This study found that a novel IKZF1 mutation, p.L188V, is linked to juvenile-onset systemic lupus erythematosus and alters B-cell activation by disrupting normal DNA binding.
September 2016 in “Journal of Dermatological Science” This study identified that in Japanese patients with autosomal recessive woolly hair/hypotrichosis, the c.736T > A LIPH mutation is associated with a mild phenotype, while the c.742C > A mutation may lead to severe baldness.
November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
42 citations
,
February 2017 in “Dermatologic surgery” This study found that VYC-15L (Juvéderm Volbella XC) was safe and effective for enhancing lip and perioral areas, achieving higher lip fullness improvement and fewer severe injection site reactions compared to NASHA, with effects lasting up to one year.
3 citations
,
October 1994 in “Journal of Labelled Compounds and Radiopharmaceuticals” This synthesis report details the successful development of a C-14 labeled isotopomer of LY300502, a 5α-reductase inhibitor, through a multi-step radiochemical process.
1 citations
,
April 2007 in “The FASEB Journal” In this study, D6D knockout mice showed severe deficiency in AA and DHA, leading to unexpected effects on skin health, fertility, and immune cell development.
139 citations
,
December 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a new type II cytokeratin, named K6hf, exclusively expressed in the companion layer of the human hair follicle, distinguishing it from other keratins and suggesting a unique biochemical role.
January 2026 in “Animal Genetics” This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.
26 citations
,
February 1998 in “DNA and Cell Biology” This research identified that the constitutive and inducible expression of the Keratin 6 gene in transgenic mice skin is controlled by multiple regulatory elements spread throughout its 5' flanking region.
8 citations
,
July 2023 in “Inflammation and Regeneration” This study found that ALKBH5 plays a critical role in wound re-epithelialization by enhancing the stability of PELI2 mRNA, and its absence delays wound healing. Supplementation with PELI2 can partially rescue this delay, pointing to potential new therapies for stubborn wounds.
This study found that the transcription factor Lhx2 regulates Sonic Hedgehog signaling in mouse retinal progenitor cells, mainly by controlling the expression of co-receptors essential for effective pathway activation during early retinal neurogenesis.
April 2018 in “Journal of Investigative Dermatology” This study found that the RNA helicase DDX6 is essential for maintaining self-renewal in epidermal progenitor cells by promoting the translation of proliferation regulators and degrading differentiation-inducing mRNAs.
8 citations
,
March 2007 in “International Journal of Cosmetic Science” This study observed that the glucose linoleate derivative 6‐O‐GL supported hair follicle growth and survival in vitro, acting as a stable lipid precursor and energy provider.
12 citations
,
March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.
20 citations
,
December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
February 2024 in “Future science OA” This commentary highlights that the loss of the Y chromosome may disrupt UTY/TLE1-RUNX1 interactions, potentially impacting male hematopoietic cell development and leading to conditions like acute myeloid leukemia and T-cell acute lymphoblast leukemia.
This study found that the long non-coding RNA lnc056 promotes the proliferation of hair follicle stem cells by upregulating TRIP6 expression through interaction with the transcription factor HNRNPUL1, suggesting a potential target for hair loss treatment.
January 2024 in “Genetics in Medicine Open” This case study of a patient with a variant in the extracellular region of IL6ST suggests a potential expansion of the phenotypic spectrum for autosomal dominant hyper-IgE syndrome, warranting further investigation.
101 citations
,
August 2001 in “The Journal of Cell Biology” This study found that while most mice lacking MK6a and MK6b genes died from tongue epithelium disintegration, about 25% survived and showed no hair or nail defects due to a newly discovered MK6hf gene.
33 citations
,
August 2008 in “American Journal Of Pathology” This study found that K6a expression in mouse sebaceous gland ducts correlates with Hedgehog signaling, suggesting a role in duct fate.
7 citations
,
September 2022 in “Communications biology” This research found that Leydig cells significantly rely on synthesizing omega-6 HUFAs to support male steroid hormone production, highlighting a new role for these fatty acids in the male reproductive system.
1 citations
,
July 2024 in “Journal of Investigative Dermatology” VYN201 shows promise as a safe and effective treatment for non-segmental vitiligo.
3 citations
,
March 2017 in “Regulatory toxicology and pharmacology” In this study, aleglitazar and its metabolite M6 were evaluated for safety in non-clinical settings, revealing organ-targeting effects common to PPAR agonists but no significant tumor increase in rat carcinogenicity studies, supporting progression to Phase 3 clinical trials.
5 citations
,
May 2023 in “Frontiers in Cell and Developmental Biology” This study used single-cell techniques and lineage tracing to reveal that integrin α6 expression in neural crest cells can differentiate them into Schwann cells, melanocytes, and fibroblasts in skin, identifying integrin α6 as a potential marker for these derivatives.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.