research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
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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 Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis
A mutation in the KRT75 gene causes frizzle feathers in chickens.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Partial Penile Amputation due to Penile Tourniquet Syndrome in a Child Troubled With Primary Nocturnal Enuresis - A Rare Emergency
An 8-year-old boy with bed-wetting issues suffered a severe penile injury from tying a thread around his penis, requiring urgent medical treatment to avoid worse outcomes.
research Regulation of masculinization: androgen signalling for external genitalia development
Male genital development is driven by androgen signaling and understanding it could help address congenital anomalies.
research A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
research GP85 The irish experience in paediatric parry romberg syndrome- a case series highlighting management and surgical outcomes
Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
research Banded Scalp Hair with an Unusual Glistening Appearance in a Teenager: A Quiz
A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
research A failure to relax.
The man had myotonia, which caused delayed hand grip relaxation.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
research Recombinant Human Annexin A5 Ameliorates Localized Scleroderma by Inhibiting the Activation of Fibroblasts and Macrophages
Recombinant Human Annexin A5 may help treat localized scleroderma by reducing skin thickening and inflammation.
research Biomechanical Factors in Psoriatic Disease: Defective Repair Exertion as a Potential Cause. Hypothesis Presentation and Literature Review
Defective repair processes may cause immune activation and inflammation in psoriatic disease.
research Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
research Inhibiting the cytosolic function of CXXC5 accelerates diabetic wound healing by enhancing angiogenesis and skin repair
Blocking CXXC5 speeds up diabetic wound healing by improving blood vessel growth and skin repair.
research A new tool for conditional gene manipulation in a subset of keratin‐expressing epithelia
The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
research Canestick Lesion of Vellus Hair in Netherton's Syndrome
Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
research The mouse frizzy (fr) and rat ‘hairless’ (frCR) mutations are natural variants of protease serine S1 family member 8 (Prss8)
The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
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 Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research Divergent molecular signatures of regeneration and fibrosis during wound repair
Disrupting YAP signaling in skin cells leads to scar-free healing directed by specific cell signals.
research Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
A gene variant causes a skin and hair disorder by disrupting protein balance.
research Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research MULTIPLE HEMANGIOMAS OF THE TONGUE AND ORAL CAVITY IN A MYOTONIC DYSTROPHY TYPE 1 PATIENT: A CASE REPORT
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.