September 2025 in “Indian Journal of Dermatology” In this case report, researchers detailed a 22-year-old Turkish woman diagnosed with autosomal recessive woolly hair/hypotrichosis (ARWH/H), linked to a mutation in the LIPH gene, resulting in sparse, poorly growing, curly hair, highlighting the need for genetic consideration in similar hair conditions.
4 citations
,
May 2024 in “Cytotechnology”
In this study, researchers developed de novo designed hetero-bifunctional proteins as an alternative approach for targeted protein degradation, successfully targeting BCL-xL for degradation in cells and inducing apoptosis, which may expand the range of addressable E3 ligases and disease targets.
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.
2 citations
,
January 2014 in “Photochemical & photobiological sciences” This study suggests that the Grasp protein may play a role in regulating skin homeostasis following UVB exposure by influencing p53-mediated apoptotic responses in mice.
This study identified UBC22 as a novel E2 enzyme responsible for Lys11-linked ubiquitination in Arabidopsis, revealing its crucial roles in seed setting, female gametophyte development, and pathogen resistance.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This case study reports that a 26-year-old woman with epidermolysis bullosa prurogompsa also presented with unique findings of co-existing muscular dystrophy and immune-based myasthenia gravis, with significant improvement following steroid treatment.
July 2021 in “Authorea (Authorea)” This article discusses Graham-Little Piccardi Lassueur Syndrome, a rare variant of Lichen planopilaris, but reports no clinical findings or results.
6 citations
,
November 2008 in “Journal of Dermatological Science” Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
April 2023 in “Journal of Investigative Dermatology” RNase L suppresses regeneration in mammals.
This study found that the proteins Par3, mInsc, and Gαi3 cooperate to regulate LGN polarization and promote perpendicular cell divisions during murine epidermal morphogenesis.
8 citations
,
June 2022 in “Scientific Reports” Using a transgenic pig model, this study demonstrated that LGR5 is a marker of hair follicle stem cells across different species, with important similarities and differences in gene expression and developmental processes.
September 2017 in “Journal of Investigative Dermatology” LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
September 2022 in “The American Journal of Dermatopathology” This study found that IL-17 expression was significantly higher in perifollicular fibrosis of active Lichen planopilaris lesions, suggesting that targeting IL-17 could impact the disease's progression.
18 citations
,
May 2011 in “Journal of Investigative Dermatology” Wnt signaling affects the development and growth of Langerhans cells in mice.
September 2021 in “CRC Press eBooks” This review discusses the clinical and trichoscopic features of lichen planopilaris and notes its potential underdiagnosis prior to hair transplant, but it reports no new findings.
85 citations
,
June 2017 in “Journal of Investigative Dermatology” This study found that Blimp1 plays a key role in promoting hair follicle morphogenesis and growth by mediating inductive signaling pathways in dermal papilla cells.
December 2013 in “Appetite” This study identified a nonfunctional Itpr3 gene in BTBR mice, attributed to a 12-bp deletion, which likely causes their simultaneous hair loss and taste perception deficits.
9 citations
,
April 2018 in “Canadian Journal of Animal Science” This study found that LEF-1 expression influences dermal papilla cells' proliferation through Wnt signaling, impacting the potential for cashmere yield improvement.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.
April 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” In this mouse model study, researchers found that deleting the ASH2L gene in epidermal progenitor cells led to thinner epidermal layers, delayed hair follicle development, and reduced epidermal stem cell pools, with alterations in genes related to hair follicle development and the Notch signaling pathway.
38 citations
,
April 2017 in “PLOS Genetics” This study found that human progenitor keratinocytes form unique complements of enhancers and super-enhancers during differentiation and migration, influencing gene expression and skin disease variant enrichment.
12 citations
,
February 1998 in “Gene” This study identified two high sulfur protein genes, B2E and B2F, in rats, which are expressed in hair cortical cells during anagen and contribute to hair fiber production.
This study observed that TBX3 mRNA expression levels were region-specific and correlated with pigmentation patterns in dun Mongolian horses, providing insights into the genetic mechanisms behind their distinctive Bider markings.
12 citations
,
August 2007 in “Human Molecular Genetics” This study found that Lymphotoxin-beta primarily influences periderm differentiation, impacting epidermal and hair follicle differentiation at later stages.
November 2023 in “Scientific Reports” In this study, researchers used NIH hairless mice to uncover genetic markers associated with hair loss and identified a Lama3 point mutation as a potential genetic contributor, creating a mutant mouse model that may advance the study of androgenetic alopecia.
June 2026 in “British Journal of Dermatology” This case study documented the first known instance of biopsy-confirmed lichen planopilaris occurring after hairline-lowering surgery in a patient without prior history, highlighting a potential complication where surgical trauma may trigger immune-mediated hair loss.
14 citations
,
March 2022 in “Plant Cell & Environment” In this study, the authors reported that AtRXR3, a phosphorus-inducible DUF506 protein, modulates root hair growth under phosphorus stress by interacting with calmodulin and influencing calcium oscillations.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.