research Two Novel BTD Mutations Causing Profound Biotinidase Deficiency in a Chinese Patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
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90-120 / 1000+ resultsresearch Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Evidence for Multiple, Developmentally Regulated Isoforms of Ptprq on Hair Cells of the Inner Ear
Ptprq has multiple forms that change during inner ear development.
research Effects of the Usage of L-Cysteine on Human Health
L-Cysteine may have health benefits, but its effectiveness is still debated due to limited clinical trial data.
research PSS20 Mediation Modeling and Measurement Characteristics of the Itch Severity Score from a Phase 2B Trial of Oral CP-690-550 in Patients with Moderate-to-Severe Plaque Psoriasis
CP-690,550 significantly reduced itching in patients with moderate-to-severe plaque psoriasis.
research 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 Evaluation of Clinical Adverse Effects and Laboratory Changes in Patients with Acne Vulgaris Treated with Oral Isotretinoin
Isotretinoin is safe and effective for acne, with common side effects like dry lips; serious side effects are rare.
research Genetics of Blond Hair
Blond hair in Solomon Islanders is due to a unique genetic variant, not European ancestry.
research Adaptations in the Structure and Innervation of Follicle-Sinus Complexes to an Aquatic Environment as Seen in the Florida Manatee (Trichechus Manatus Latirostris)
Manatee whiskers are specially adapted for touch in water.
research Structural Abnormalities of the Hair Shaft
The document concludes that understanding hair structure is key to diagnosing hair abnormalities and recommends gentle hair care for management.
research Identification of Novel Mutation in the HR Gene Responsible for Atrichia with Papular Lesions in a Pakistani Family
Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
research Defining the Cellular Environment in the Organ of Corti Following Extensive Hair Cell Loss: A Basis for Future Sensory Cell Replacement in the Cochlea
The conclusion is that genetic differences affect how the cochlea heals after hair cell loss, which may challenge the creation of hearing loss treatments.
research Prevalence Of Cobalt In The Environment And Its Role In Biological Processes
Cobalt is important for health but too much or too little can cause health problems, and its environmental buildup is a concern.
research Analysis of the FGF Gene Family Provides Insights into Aquatic Adaptation in Cetaceans
Whale genes show changes that help them live in water, like less hair and better flippers.
research Myc and Fgf Are Required for Zebrafish Neuromast Hair Cell Regeneration
Zebrafish need MYC and FGF to regenerate inner ear hair cells.
research A Proposed Etiopathology of Persistent Dysfunctions Emerging from Use and Discontinuation of 5-Alpha Reductase Inhibitors: Sequelae of Drug-Mediated Microvasculopathy
The document suggests that drugs for prostate issues might cause lasting sexual, mental, and physical health problems due to blood vessel damage in the penis.
research Understanding Melanocyte Stem Cells for Disease Modeling and Regenerative Medicine Applications
Melanocyte stem cells are crucial for skin pigmentation and have potential in disease modeling and regenerative medicine.
research TMT-Based Quantitative Proteomic Analysis Reveals the Effect of Bone Marrow Derived Mesenchymal Stem Cells on Hair Follicle Regeneration
Bone marrow stem cells and their medium help hair regrowth.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Adipocytes in Skin Health and Disease
Fat cells are important for healthy skin, hair growth, and healing, and changes in these cells can affect skin conditions and aging.
research Hair Disorders
The document concludes that various hair disorders have different treatments, including medication, surgery, and addressing underlying causes.
research Safety Analysis of Panax Ginseng in Randomized Clinical Trials: A Systematic Review
Panax ginseng is generally safe with mild side effects and may have health benefits, but more research is needed.
research Long-Term Administration of Triterpenoids From Ganoderma Lucidum Mitigates Age-Associated Brain Physiological Decline via Regulating Sphingolipid Metabolism and Enhancing Autophagy in Mice
Taking triterpenoids from Ganoderma lucidum over a long time can help slow down brain aging and improve overall health in mice.
research Antagonism of NMDA Receptors as a Potential Treatment for Down Syndrome: A Pilot Randomized Controlled Trial
Memantine may slightly improve memory in people with Down syndrome, but more research is needed.
research Hair Follicle Pigmentation: Mechanisms and Factors Influencing Melanin Production
Hair color is determined by melanin produced and transferred in hair follicles.
research A Rare Case of Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research Sesn2/AMPK/mTOR Signaling Mediates Balance Between Survival and Apoptosis in Sensory Hair Cells Under Stress
Sesn2 protects inner ear hair cells from damage by regulating certain cell survival pathways.
research Skin Biology: Understanding Biological Targets for Improving Appearance
The document concludes that a deeper understanding of skin aging and photodamage is needed to create better skin treatments.
research The North American Menopause Society Recommendations for Clinical Care of Midlife Women
The NAMS 2014 recommendations guide healthcare providers on treating health issues in midlife women, emphasizing individualized care and informed decision-making.