research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
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900-930 / 1000+ resultsresearch Gene expression profiling suggests severe, extensive central centrifugal cicatricial alopecia may be both clinically and biologically distinct from limited disease subtypes
Severe CCCA may be biologically and clinically different from milder forms.
research Trichothiodystrophy: an ultrastructural study of the hair follicle
Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.
research Telogen Phase of Hair Growth Cycle Is Regulated by Cyclic Epithelial FGF18 Signaling
FGF18 controls hair growth rest phase.
research P095 The Very Interesting Small Bowel Lesions of Cronkhite-Canada Syndrome
Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
research miR‐218‐5p regulates skin and hair follicle development through Wnt/β‐catenin signaling pathway by targeting SFRP2
miR-218-5p helps skin and hair growth by targeting SFRP2 and activating a specific signaling pathway.
research Immunohistochemical Expression of the ${\alpha}$ - and ${\gamma}$ -catenin in the Fetal Skin Development
α- and γ-catenins help develop fetal skin by 23 weeks.
research Integrin β1 Establishes Liver Microstructure and Modulates Transforming Growth Factor β during Liver Development and Regeneration
Integrin β1 is crucial for liver structure and function, preventing fibrosis.
research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency epidemiology, etiopathogenesis, clinical presentation, treatment – a systematic review
CAH requires a multidisciplinary approach, and while current treatments help, future therapies show promise.
research Eflúvio telógeno crônico = análise clínica, laboratorial, histológica e imuno-histoquímica = Chronic telogen effluvium: clinical, laboratory, histological and immunohistochemical analyses
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research Clinical Translation of Targeted Protein Degraders
Targeted protein degraders show promise in treating cancer but need to target more diverse proteins.
research Screening and Identification of LncRNAs Related to Villus Growth of Liaoning Cashmere Goats and Their Effects on Growth after FGF5 Treatment
Certain long non-coding RNAs in cashmere goats affect hair growth when treated with a specific growth factor.
research Pharmacological evidence for the involvement of adenosine triphosphate sensitive potassium channels in chloroquine-induced itch in mice
ATP-sensitive potassium channels play a role in chloroquine-induced itch in mice.
research 732 Ceramide synthase 4 controls epidermal lipid composition and barrier function
Ceramide synthase 4 is essential for maintaining skin barrier health.
research Epithelial Fibronectin meshwork controls skin regeneration
Fibronectin is essential for hair follicle regeneration by supporting stem cells.
research Erythromelanosis follicularis faciei et colli with reticulated hyperpigmentation of the extremities
A rare skin condition causes red and dark patches on the face and limbs.
research A Case of Cronkhite-Canada Syndrome Presenting with Hematochezia
Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
research Fibroblast Growth Factors in Epithelial Homeostasis and Repair
Fibroblast Growth Factors (FGFs) help maintain and repair skin tissues, which is important for preventing diseases like inflammation, fibrosis, and cancer.
research Regulation of a hair follicle keratin intermediate filament gene promoter
The LEF-1 binding site enhances gene expression in hair follicles, with other proteins aiding specific regulation.
research Intraoperative Floppy Iris Syndrome: Updated Perspectives
Certain medications and patient factors increase the risk of Intraoperative Floppy Iris Syndrome during cataract surgery, but with careful planning and technique adjustments, complications can be minimized.
research 1438 KLF4 maintains hair follicle stem cell quiescence
KLF4 is important for keeping hair follicle stem cells inactive.
research Effect of CUX1 on the Proliferation of Hu Sheep Dermal Papilla Cells and on the Wnt/β-Catenin Signaling Pathway
CUX1 boosts sheep hair cell growth and affects curl patterns.
research Congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis: a case report with 7-year follow-up
Early intervention and protective measures are crucial for managing CIPA due to the lack of pain and standard treatment.
research Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations
Researchers made a mouse model with curly hair and hair loss by editing a gene.
research Colocalization of Cystatin M/E and its Target Proteases Suggests a Role in Terminal Differentiation of Human Hair Follicle and Nail
Cystatin M/E helps in the final stages of hair and nail formation by controlling certain enzymes.
research More about X‐linked testicular feminization of the mouse as a noninducible (is) mutation of a regulatory locus: 5α‐androstan‐3α‐17ß‐diol as the true inducer of kidney alcohol dehydrogenase and ß‐glucuronidase
A specific metabolite, not a receptor protein, triggers the production of certain kidney enzymes, but this process is disrupted in mice with a mutation causing testicular feminization.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Faculty Opinions recommendation of A counter gradient of Activin A and follistatin instructs the timing of hair cell differentiation in the murine cochlea.
Activin A speeds up ear hair cell differentiation, while Follistatin slows it down.
research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.