research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
Search
for
Sort by
Research
330-360 / 1000+ results research Nelfb promotes dermal white adipose tissue formation through RNA Polymerase II mediated adipogenic gene regulation
Nelfb is crucial for forming skin fat tissue by regulating genes needed for fat cell development.
research Mechanisms that regulate androgen receptor transcriptional activity
DHT enhances androgen receptor activity more than testosterone, and MAGE-11 influences this activity through specific interactions.
research 1336 The de novo DNA methyltransferase DNMT3A is required for epidermal homeostasis
DNMT3A is crucial for healthy skin and hair growth.
research 14. 膠原病患者における心理状態の統計学的観察(第45回 日本心身医学会東北地方会 演題抄録)
Suppressing ODC activity reduces tumor growth in hair follicles.
research The CAP1/Prss8 catalytic triad is not involved in PAR2 activation and protease nexin‐1 (PN‐1) inhibition
CAP1/Prss8 does not activate PAR2 or inhibit PN-1.
research The interaction of CaM7 and CNGC14 regulates root hair growth inArabidopsis
CaM7 and CNGC14 interaction controls root hair growth in Arabidopsis.
research Neuregulin3 alters cell fate in the epidermis and mammary gland
Neuregulin3 affects cell development in the skin and mammary glands.
research Physiological and retinoid-induced proliferations of epidermis basal keratinocytes are differently controlled
Normal skin cell renewal doesn't need RAR signaling, but vitamin A-related skin thickening does.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research The abnormal, mis-localizated HR bmh protein associates with members of the protein processing machinery in the cytoplasm
The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
research Armadillo Repeat Only Proteins Are Crucial for the Function of Plant CNGC Channels
Armadillo Repeat Only proteins are essential for proper plant growth and response by regulating calcium channels.
research An accessible pharmacodynamic transcriptional biomarker for notch target engagement
Hair follicle samples effectively show how well the drug MK-0752 targets and engages with the Notch pathway.
research N-terminal functional domain of Gasdermin A3 regulates mitochondrial homeostasis via mitochondrial targeting
Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
research Interplay between EDA-EDAR and WNT signalling pathways in the development of skin appendages in hypohidrotic ectodermal dysplasia
Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
research Both Retinoic Acid Receptors α (RARα) and γ (RARγ) Are Able to Initiate Mouse Upper-Lip Skin Glandular Metaplasia
research Activation of Nrf2 in keratinocytes causes chloracne (MADISH)‐like skin disease in mice
Activating Nrf2 in skin cells causes skin disease similar to chloracne in mice.
research MLO ‐mediated Ca2+ influx regulates root hair tip growth in Arabidopsis
MLO proteins help regulate calcium and ROS levels, promoting root hair growth in Arabidopsis.
research Protein and amino acid composition of hair from mice carrying the naked (N) gene
The N gene affects the protein makeup of mouse hair.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Activation of AR Sensitizes Breast Carcinomas to NVP-BEZ235's Therapeutic Effect Mediated by PTEN and KLLN Upregulation
Breast cancer treatments work better with AR activation, improving results and reducing side effects.
research Necrosulfonamide promotes hair growth and ameliorates DHT-induced hair growth inhibition
Necrosulfonamide helps hair grow by blocking a protein linked to hair loss.
research Co-operation between follicular ornithine decarboxylase and v-Ha-ras induces spontaneous papillomas and malignant conversion in transgenic skin
High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
research The investigation of selective sphingosine-1 phosphate receptor 1&4 modulator to treat alopecia areata mouse model
NXC736 significantly reduced hair loss in mice with alopecia areata.
research Study of the interaction between self-assembling peptide and mangiferin and in vitro release of mangiferin from in situ hydrogel
RADA16-I can effectively deliver and release mangiferin, improving its solubility and bioavailability.
research Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
research Molecular cloning of two novel types of peptidylarginine deiminase cDNAs from retinoic acid‐treated culture of a newborn rat keratinocyte cell line
Two new enzymes, PAD-R11 and PAD-R4, were cloned and showed activity, with PAD-R11 resembling epidermal enzymes.
research Structure of human steroid 5α-reductase 2 with the anti-androgen drug finasteride
Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.