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.
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research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Par3–mInsc and Gαi3 cooperate to promote oriented epidermal cell divisions through LGN
Par3–mInsc and Gαi3 work together to ensure proper cell division orientation in skin development.
research Adam10 haploinsufficiency causes freckle-like macules in Hairless mice
A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
research Suppression of mammary tumorigenesis in transgenic mice by the RXR-selective retinoid, LGD1069.
LGD1069 effectively prevents breast tumors in mice without toxicity.
research Loss of Memo, a novel FGFR regulator, results in reduced lifespan
Losing Memo protein shortens lifespan and affects health.
research Matriptase: Potent Proteolysis on the Cell Surface
Matriptase is crucial for skin, hair, and immune cell health, and its imbalance can lead to cancer.
research Grp1-associated scaffold protein regulates skin homeostasis after ultraviolet irradiation
Grasp protein helps maintain skin health after UVB exposure.
research Genetic variations associated with response to dutasteride in the treatment of male subjects with androgenetic alopecia
Genetic variations affect dutasteride treatment response for male pattern hair loss.
research Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets
Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
research Inducible Cutaneous Inflammation Reveals a Protumorigenic Role for Keratinocyte CXCR2 in Skin Carcinogenesis
CXCR2 in skin cells promotes tumor growth.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research New plaque protein identified in brains of people with Alzheimer's disease
Scientists found a new protein, AMY117, common in Alzheimer's patients, which could be important for treatment and diagnosis.
research Genetic Analysis of Male Pattern Baldness and the 5α-Reductase Genes
Male pattern baldness is likely caused by multiple genes, not just 5α-reductase genes.
research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research Disease causing homozygous variants in the human hairless gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research Integrative Proteo‐Transcriptomic Characterization of Androgenetic Alopecia Identifying ME1 ‐Mediated PPAR Signaling as a Potential Mediator
ME1 and PPAR signaling may influence hair loss in androgenetic alopecia.
research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
A genetic variant in the KRT25 gene causes tightly curled hair.
research Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case–control Study
The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
research Characterizing enteric neurons in Dopamine Transporter (DAT)-Cre reporter mice reveals dopaminergic subtypes with dual-transmitter content
Dopaminergic neurons in the gut have distinct subtypes, some releasing both dopamine and acetylcholine.
research Frizzled Receptors in Development and Disease
Frizzled receptors are essential for various body development processes and maintaining certain body functions.
research Interplay of MicroRNA-21 and SATB1 in Epidermal Keratinocytes during Skin Aging
miR-21 increases skin aging by reducing SATB1, affecting skin cell function.
research Oxygen, Metabolism, and Regeneration: Lessons from Mice
Mice with enhanced regeneration abilities may help develop new regenerative medicine therapies.
research An ERK-dependent molecular switch antagonizes fibrosis and promotes regeneration in spiny mice (Acomys)
A specific molecular switch, driven by MAPK/ERK signaling, helps spiny mice heal wounds by regenerating skin instead of forming scars.
research Converging physiological roles of the anthrax toxin receptors
CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.