research High-content drug screening for rare diseases
High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
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research A Connection between the Mitochondrial Permeability Transition Pore, Autophagy, and Cerebral Amyloidogenesis
Dutasteride may help reduce brain plaque linked to Alzheimer's by affecting cell energy structures and waste removal.
research Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia
Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
research 43755 Rapid Reduction and Strict Complete Response in Itch With Oral Difelikefalin in Subjects With Notalgia Paresthetica and Moderate-to-Severe Pruritus
Oral difelikefalin significantly reduces itch in notalgia paresthetica.
research Lef1 Contributes to the Differentiation of Bulge Stem Cells by Nuclear Translocation and Cross-Talk with the Notch Signaling Pathway
Lef1 helps stem cells become hair cells by interacting with specific signaling pathways.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
CDH3-related disease causes worsening eye and hair issues.
research An Expert System for Clinical Risk Assessment of Polycystic Ovary Syndrome under Uncertainty
The document concludes that the new expert system can assess the risk of PCOS effectively despite uncertainties in diagnosis.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report
Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
research Brg1 Governs a Positive Feedback Circuit in the Hair Follicle for Tissue Regeneration and Repair
Brg1 is crucial for hair growth and skin repair by maintaining stem cells and promoting regeneration.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): An update
The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
research Biotin deficiency in an infant fed with amino acid formula and hypoallergenic rice
Biotin should be added to Japanese amino acid formula to prevent deficiency.
research HERBSNAP: Advanced Classification of Bhringaraja and Honegone Herbal Species
Machine learning can accurately tell apart False Daisy and Smooth Joy Weed.
research Crystal Structure of 17-.BETA.-Benzoyloxy-16-.BETA.-methylpregna-4,6-diene-3,20-dione.
A new antiandrogen compound was made and its detailed three-dimensional shape was described.
research Management of pregnancy in a carrier of the Donohue mutation
Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
research Increased hair polyamine levels in patients with alzheimer's disease
Alzheimer's patients have higher levels of certain chemicals in their hair.
research The transcriptional repressor CDP (Cutl1) is essential for epithelial cell differentiation of the lung and the hair follicle
CDP is crucial for lung and hair follicle cell development.
research Collider bias undermines our understanding of COVID-19 disease risk and severity
Collider bias can distort our understanding of COVID-19 risk and severity.
research Toxicity profile of antibody-drug conjugates in breast cancer: practical considerations
ADCs can effectively treat breast cancer but may cause side effects like nausea and hair loss.
research Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency
Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
research Diphenyl cresyl phosphate [MAK Value Documentations, 2003]
Diphenyl cresyl phosphate has low toxicity but can harm the liver, kidneys, adrenal glands, and testicles at high doses.
research Dental manifestations in Vitamin D dependent rickets Type II with Alopecia: a short pictorial case report
Children with Vitamin D-dependent rickets type II may have severe dental issues that need a team of specialists for proper care.
research Defining and targeting differentiation of non-melanoma skin cancer
Basal cell carcinoma behaves like hair follicles and targeting specific pathways may help treat it.
research A direct link betweenPrss53, hair curvature, and skeletal dysplasia
The gene Prss53 affects hair shape and bone development in rabbits.
research Hepatocyte growth factor combined with adenosine deaminase as biomarker for diagnosis of tuberculous pleural effusion
HGF combined with ADA is highly accurate for diagnosing tuberculous pleural effusion, especially in younger females.
research Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
research A novel derivative of doxorubicin, AD198, inhibits canine transitional cell carcinoma and osteosarcoma cells in vitro
AD198 is more effective than doxorubicin in stopping certain dog cancer cells.