research Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation
Cathepsin L deficiency causes hair and skin issues in mice.
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660-690 / 1000+ resultsresearch Abstract 10845: Spontaneous Coronary Artery Dissection as the Primary Presentation of Ana-Negative Lupus
SCAD can indicate ANA-negative lupus, especially in women with unusual symptoms.
research Retiform Sertoli-Leydig Cell Ovarian Tumour Presenting with Psammoma Bodies: A Rare Case Report
A rare ovarian tumor was successfully treated with surgery and chemotherapy.
research Abstract 2469: Increased cathepsin B expression in cultured tuberous sclerosis skin tumor cells and patient tumor tissues
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Sostdc1 defines the size and number of skin appendage placodes
Sostdc1 controls the size and number of hair and mammary gland structures.
research Manganese-Doped Calcium Silicate Nanowire Composite Hydrogels for Melanoma Treatment and Wound Healing
MCSA hydrogels can effectively treat melanoma and aid wound healing.
research Design and Clinical Assessment of a Non-Invasive, Low-Power Laser Irradiation System for Post-Hysterectomy Genitourinary Rehabilitation in Cervical Cancer Patients
The laser system can safely improve recovery and quality of life for cervical cancer patients after surgery.
research A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females
A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
research Six SNPs and a TTG indel in sheep desmoglein 4 gene are in complete linkage disequilibrium
Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation
The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Molecular genetics of androgen insensitivity
Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
research Association study between the -866G/A polymorphism in the promoter of uncoupling protein-2 gene and polycystic ovary syndrome
The -866G/A polymorphism in the UCP2 gene is not linked to polycystic ovary syndrome.
research Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research Combinatorial Therapy of Letrozole- and Quercetin-Loaded Spanlastics for Enhanced Cytotoxicity against MCF-7 Breast Cancer Cells
Combining letrozole and quercetin in spanlastics may improve breast cancer treatment.
research Engineered Bilayer Hydrogel with Spatiotemporal Drug and Oxygen Delivery for Diabetic Wound Microenvironment Reprogramming
The hydrogel effectively heals diabetic wounds by reducing inflammation, providing oxygen, and preventing infection.
research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research A Femtosecond Fiber Laser‐Based Compact Label‐Free Multimodality Nonlinear Optical Microscopy and Its Ex Vivo Bioimaging
A new laser-based microscope can clearly image biological structures without labels.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research Genetic targeting of lymphatic endothelial cells in mice: current strategies and future perspectives
Mouse models help target specific genes in lymphatic cells for research.
research Discover the True Science of Multispecialty Light-Emitting Diode Low Level Light Therapy (LED-LLLT)
LED-LLLT helps heal wounds, reduce pain, and regrow hair using specific light wavelengths.
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Lrig1 Expression in Human Sebaceous Gland Tumors
Lrig1 could be a marker for advanced sebaceous carcinoma.
![The Synthesis of (−)-4-Methyl-8-Chloro-Trans-1,2,3,4,4a,5,6,10b-Octahydrobenzo-[f]-Quinolin-3-One-[3-14C] (LY300502-14C) via a Circuitous Route](/images/research/73bab8dc-bdf0-45e3-8ef7-73d0d4b93cb1/small/21074.jpg)
research The synthesis of (−)-4-methyl-8-chloro-trans-1,2,3,4,4a,5,6,10b-octahydrobenzo-[f]-quinolin-3-one-[3-14C] (LY300502-14C]) via a circuitous route
Scientists made a carbon-14 labeled version of a drug with a 48% yield and over 99% purity.
research pH-Responsive Hydrogel with Dual-crosslinked Network of Polyvinyl Alcohol/Boric Acid for Controlled Release of Salvianolic Acid B: Novel Pro-Regenerative Mechanisms in Scar Inhibition and Wound Healing
The hydrogel helps reduce scarring and improve wound healing by releasing salvianolic acid B in acidic conditions.