research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
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research Distinct expression profile of stem cell markers, LGR5 and LGR6, in basaloid skin tumors
LGR5 and LGR6 are expressed differently in various skin tumors, which may offer clues about their origins.
research Improved 2α-Hydroxylation Efficiency of Steroids by CYP154C2 Using Structure-Guided Rational Design
Mutants of CYP154C2 enzyme significantly improved steroid conversion efficiency.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATPChannel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research Author response: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Application of second near infrared fluorescence imaging to trace CelTrac1000-labeled hair follicle epidermal neural crest stem cells in repairing rat facial nerve defects
NIR-II imaging effectively tracked stem cells that helped repair facial nerve defects in rats.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
research ACE1 rs1799752 polymorphism is not associated with long-COVID symptomatology in previously hospitalized COVID-19 survivors
The ACE1 gene variant doesn't affect long-COVID symptoms.
research Decision letter: Interplay of opposing fate choices stalls oncogenic growth in murine skin epithelium
Skin cells can naturally limit the growth of cancerous changes by balancing cell renewal and differentiation.
research A SUBPOPULATION OF ITCH RECEPTORS MARKED BY RET EXPRESSION
A new type of nerve cell involved in itch perception was discovered.
research Sebaceous gland abnormalities in fatty acyl CoA reductase 2 (Far2) null mice result in primary cicatricial alopecia
Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.
research Second-to-fourth digit ratio and seborrheic dermatitis in males: a cross-sectional study*
Finger length ratios might predict risk for skin condition in males.
research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
research Preliminary toxicity profile of arotinoids SMR-2 and SMR-6 in male B6D2F1 mice*1
SMR-2 and SMR-6 are much more toxic than retinoic acid, causing severe side effects.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research 1370 17β-estradiol may control human HF growth also via up-regulating the expression of cannabinoid receptor type1 expression
17β-estradiol may help hair growth by increasing cannabinoid receptor type 1.
research Electrophoretic analysis of human hair keratins
Family members have similar hair protein patterns, which could be useful for genetic studies.
research Function and interactions of the Ysc84/SH3yl1 family of actin- and lipid-binding proteins
The Ysc84/SH3yl1 protein family is important for cell movement and the process of taking in materials by interacting with actin and cell membranes.
research Analyse de la régulation du gène Hairless et identification des voies de signalisation affectées chez les mutants «bald Mill Hill».
The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
research Spermidine/spermine-N1-acetyltransferase: a key metabolic regulator
SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
research Isolation of sensory hair cell specific exosomes in human perilymph
research Isolation of sensory hair cell specific exosomes in human perilymph
research The transcription elongation factors Spt4 and Spt6 promote dermal adipocyte differentiation
Spt4 and Spt6 are essential for fat cell development.
research Physical and Functional Interaction between the Vitamin D Receptor and Hairless Corepressor, Two Proteins Required for Hair Cycling
Vitamin D receptor and hairless protein are essential for hair growth.
research Childhood Systemic Lupus Erythematosus: Clinical and Immunologic Patterns in Mexican Children
Gender-specific analysis could improve treatment for childhood systemic lupus erythematosus.
research Roles of two sphingomyelin synthase isoforms in murine hair
Both SMS1 and SMS2 are crucial for normal hair growth and cycle in mice.
research Exploring the Potential Routine Use of Electronic Healthcare Record Data to Strengthen Early Signal Assessment in UK Medicines Regulation: Proof-of-Concept Study
Using electronic health records can help identify drug side effects but has some limitations.