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research AIMP1 의 CD34+ 모낭 줄기세포의 증식 유도효과 연구

August 2017 in “Seoul National University Open Repository (Seoul National University)”

The study investigated the role of Aminoacyl-tRNA synthetase interacting multifunctional protein 1 (AIMP1) in hair follicle stem cell proliferation and its potential as a treatment for alopecia. AIMP1, when dissociated from the multi-tRNA synthetase complex, was found to be secreted by dermal papilla cells in a sonic hedgehog (Shh) signal-dependent manner. This secretion increased the proliferation of CD34+ hair follicle stem cells by promoting the wnt signaling pathway through inhibition of sFRP1, a known wnt antagonist. The research demonstrated that the N-terminal fragment of AIMP1 could be developed into a therapeutic peptide for hair loss. When applied topically to depilated mice, this peptide significantly accelerated hair growth, especially when formulated with carbomer. The findings highlighted a novel mechanism of AIMP1 action and its potential application in alopecia treatment.

research A Receptor-Like Kinase Mediates Ammonium Homeostasis and Is Important for the Polar Growth of Root Hairs inArabidopsis

107 citations , April 2014 in “The Plant cell”

In this study, researchers showed that the CAP1 gene regulates root hair growth in plants by modulating cytoplasmic ammonium levels and maintaining calcium gradients, highlighting its role in ammonium homeostasis.

research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity

372 citations , December 2004 in “Nature Genetics”

research Intramembrane Proteolysis of Astrotactins

8 citations , January 2017 in “Journal of Biological Chemistry”

This study found that astrotactin-2 undergoes unique intramembrane proteolysis during maturation, revealing specific transmembrane topologies and substrate sequence requirements for cleavage.

research Conditional Activin Receptor Type 1B (Acvr1b) Knockout Mice Reveal Hair Loss Abnormality

46 citations , December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study found that Acvr1b signaling is crucial for both hair follicle development and cycling in mice, with the genetic disruption leading to hair loss and a thickened epidermis.

research Skin-specific expression of a truncated E1a oncoprotein binding to p105-Rb leads to abnormal hair follicle maturation without increased epidermal proliferation.

30 citations , June 1993 in “The Journal of Cell Biology”

This study found that transgenic mice expressing a mutant E1a oncoprotein in their skin had disturbed hair follicle maturation but did not show increased tumor development or proliferation.

research Embryonic NIPP1 depletion in keratinocytes triggers a cell-cycle arrest and premature senescence in adult mice

February 2024 in “Journal of Investigative Dermatology”

In this study, the deletion of NIPP1 in keratinocytes led to chronic skin inflammation and epidermal changes in mice, with early cell-cycle arrest and premature senescence observed, potentially contributing to reduced mutagen sensitivity.

research hKAP1.6 and hKAP1.7, Two Novel Human High Sulfur Keratin-Associated Proteins are Expressed in the Hair Follicle Cortex

24 citations , February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology”

In this study, researchers identified two new keratin-associated proteins, hKAP1.6 and hKAP1.7, in human hair follicles, contributing to understanding hair fiber differentiation.

Smad1 and Smad5 but Not Smad8 Establish Stem Cell Quiescence Critical for Transforming Premature Hair Follicles During Morphogenesis to the Postnatal State

research Smad1 and 5 but Not Smad8 Establish Stem Cell Quiescence Which Is Critical to Transform the Premature Hair Follicle During Morphogenesis Toward the Postnatal State

31 citations , September 2013 in “Stem Cells”

This study suggests that canonical BMP signaling, particularly involving Smad1 and Smad5, plays a critical role in hair follicle stem cell regulation and hair morphogenesis, with distinct roles from pSmad8.

research Grp1-associated scaffold protein regulates skin homeostasis after ultraviolet irradiation

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.

research Loss of Repressor Activator Protein 1 Precipitates Cardiac Aging in Mice via p53/PPARα Signaling

April 2020 in “The FASEB Journal”

This study found that Rap1 deficiency in mice may lead to telomere shortening, DNA damage, and impaired mitochondrial function, contributing to cardiac aging and dysfunction.

research AP-1 and TGFß cooperativity drives non-canonical Hedgehog signaling in resistant basal cell carcinoma

60 citations , October 2020 in “Nature Communications”

This study found that small molecule AP-1 inhibitors may selectively target SMO inhibitor-resistant basal cell carcinoma cells characterized by specific markers, potentially enhancing combinatorial cancer therapies.

research Pmg-1 and Pmg-2 constitute a novel family of KAP genes differentially expressed during skin and mammary gland development

22 citations , August 1999 in “Mechanisms of Development”

This study identified two novel genes, pmg-1 and pmg-2, expressed in various skin and gland tissues and potentially involved in the differentiation of epithelial cells in epidermal appendages.

research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis

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.

research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum

7 citations , January 2018 in “Neurodegenerative Diseases”

This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.

research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome

112 citations , August 2012 in “The American Journal of Human Genetics”

In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.

research A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and is Associated with Androgenic Alopecia

January 2014

This study found that the rs3185480 polymorphism in the APCDD1 gene was associated with an elevated risk of developing androgenic alopecia and reduced protein levels, potentially due to altered codon usage affecting translation efficiency.

research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome

11 citations , January 2021 in “British Journal of Dermatology”

This report describes a new case of syndromic ichthyosis caused by compound heterozygous mutations in AP1B1, detailing the associated clinical features and molecular consequences in the patient.

research Characterization of Human Keratin-Associated Protein 1 Family Members

17 citations , June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings”

This study found that genes in the human keratin-associated protein 1 family may have evolved mainly through gene duplication of cysteine-repeat motifs.

research ANXA1 affects murine hair follicle growth through EGF signaling pathway

5 citations , December 2020 in “Gene”

This study found that ANXA1 may influence hair growth in mice by regulating hair follicle stem cell proliferation through the EGF signaling pathway.

research The mRNA for Protease Nexin-1 is Expressed in Human Dermal Papilla Cells and its Level is Affected by Androgen

27 citations , September 1999 in “Journal of Investigative Dermatology”

This study found that protease nexin-1 mRNA is expressed in human dermal papilla cells and is downregulated by dihydrotestosterone in balding scalp, suggesting a role in male-pattern baldness progression.

research Sept4/ ARTS Regulates Stem Cell Apoptosis and Skin Regeneration

78 citations , June 2013 in “Science”

This study found that mice lacking the Sept4/ARTS gene had more hair follicle stem cells and improved wound healing, suggesting apoptosis regulation as a potential target in regenerative medicine.

research A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3

34 citations , January 2004 in “Genomics”

In this study, researchers identified a cluster of hair-specific keratin-associated protein genes within the 21q22.3 region, revealing a novel transcription mechanism involving TSPEAR/C21orf29 that may bypass typical transcriptional termination sites.

research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity

65 citations , September 2014 in “Orphanet Journal of Rare Diseases”

This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.

research Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11*1

1 citations , May 2004 in “Biochemical and Biophysical Research Communications”

This study identified nine novel KRTAP5 family genes associated with human hair formation, demonstrating preferential expression in hair roots and suggesting their role in hair development.

research Activation of Polyamine Catabolism Profoundly Alters Tissue Polyamine Pools and Affects Hair Growth and Female Fertility in Transgenic Mice Overexpressing Spermidine/SpermineN 1-Acetyltransferase

124 citations , July 1997 in “Journal of Biological Chemistry”

This study found that overexpression of an enzyme in transgenic mice led to distorted polyamine levels, resulting in permanent hair loss and female infertility.

research 42761 The elusive BAP1 mutation in pediatric melanocytic tumors

September 2023 in “Journal of the American Academy of Dermatology”

In this study of pediatric melanocytic lesions, researchers at Massachusetts General Hospital observed no concurrent BAP1 loss and BRAFV600E positivity, characteristics of adult BIMT, suggesting that these tumors may develop at a later age rather than in childhood.

research The Transcriptional Regulator Prdm1 Is Essential for the Early Development of the Sensory Whisker Follicle and Is Linked to the Beta-Catenin First Dermal Signal

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.

research ARTS, an unusual septin, regulates tumorigenesis by promoting apoptosis

10 citations , June 2022 in “Biomedicine & Pharmacotherapy”

This review examines the molecular mechanisms by which the proapoptotic protein ARTS inhibits tumorigenesis and discusses prospects for developing drugs that mimic its function, with no new experimental results reported.

research 257 Is EBF1 a negative regulator of WNT10A in the development of androgenetic alopecia?

September 2017 in “Journal of Investigative Dermatology”

This study found that in AGA, the risk allele at locus 2q35 alters WNT10A expression through EBF1, suggesting a potential androgen-dependent regulatory mechanism.

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