research 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.
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research SOX9 in Organogenesis: Shared and Unique Transcriptional Functions
SOX9 is essential for the development of various organs and hair follicles.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Epidermal PPARγ Is a Key Homeostatic Regulator of Cutaneous Inflammation and Barrier Function in Mouse Skin
PPARγ is essential for maintaining healthy skin, controlling inflammation, and ensuring proper skin barrier function.
research Fertility Counseling and Preservation: Considerations for the Pediatric Endocrinologist
Pediatric endocrinologists should provide early fertility counseling and preservation options to young patients at risk of infertility.
research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Impact of mTORC1 Inhibition on Keratinocyte Proliferation During Skin Tumor Promotion in Wild-Type and BK5.AktWT Mice
Rapamycin reduces skin cell growth and tumor development by affecting cell signaling in mice.
research Cyclosporine A-Induced Intracranial Thrombotic Complications: Systematic Review and Case Report
Cyclosporine-A can cause serious blood clots in the brain, so patients need careful monitoring.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research Stabilization of Epithelial Beta-Catenin Compromises Mammary Cell Fate Acquisition and Branching Morphogenesis
Keeping β-catenin levels high in mammary cells disrupts their development and branching.
research Deficient Anterior Pituitary With Common Variable Immune Deficiency (David Syndrome): A New Case and Literature Reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
research Generalized Hypertrichosis After 5% Minoxidil Solution in Trichorhinophalangeal Syndrome: A Case Report and Review of the Literature
5% minoxidil can significantly increase hair growth in TRPS patients.
research Botanical Extract Combined with Minoxidil Improves 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 A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 and Non-Ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research Scd1 ab-Xyk: A New Asebic Allele Characterized by a CCC Trinucleotide Insertion in Exon 5 of the Stearoyl-CoA Desaturase 1 Gene in Mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Atypical Progeroid Syndrome Due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Hemiagenesis of the Thyroid Gland Detected by Coincidence: What Is the Clinical Relevance?
THA is a rare condition with no significant clinical consequences if thyroid function is normal.
research Hair Follicular Expression and Function of Group X Secreted Phospholipase A2 in Mouse Skin
sPLA2-X is crucial for normal hair growth and follicle health.
research Unlocking the Vital Role of Host Cells in Hair Follicle Reconstruction by Semi-Permeable Capsules
Host cells are crucial for the maturation of reconstructed hair follicles.
research Clinical Efficacy and Safety of Pulsed Dye Laser Combined with Pingyangmycin on Hyperplastic Scar After Acne
Combining Pulsed Dye Laser with Pingyangmycin is effective and safe for treating acne scars.
research Cerebellar Hypoplasia, Hypergonadotrophic Hypogonadism, Retinitis Pigmentosa, Alopecia, Microcephaly, Psychomotor Retardation, and Short Stature: D-CHRAMPS Syndrome
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Anti-Inflammatory and Anti-Hyperplastic Effect of Bazhengsan in a Male Rat Model of Chronic Nonbacterial Prostatitis
Bazhengsan reduces inflammation and tissue growth in chronic prostatitis.
research Expression and Cellular Localization of Keratinocyte Growth Factor and Its Receptor in Human Hyperplastic Prostate Tissue
KGF and its receptor are found in enlarged prostate tissue and KGF strongly increases cell growth.
research Tributyltin Effects on Ocinebrina Aciculata: Imposex Development, Sterilization, Sex Change, and Population Decline
Tributyltin exposure causes sex changes, sterilization, and decline in the snail Ocinebrina aciculata, risking its extinction.
research Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
research A Null Mutation in the Cystatin M/E Gene of Ichq Mice Causes Juvenile Lethality and Defects in Epidermal Cornification
A gene mutation in mice causes skin defects and early death.
research The Effects of Synthetic and Natural Hormones of the Adrenal Cortex on Melanin Deposition in Adrenalectomized Black Rats Fed Diets Adequate and Deficient in Vitamin B1
Synthetic hormone treatment reduces melanin and hair growth in rats.
research The Transient Role of Calcium and Vitamin D During the Developmental Hair Follicle Cycle
Vitamin D and calcium are essential for normal hair growth.
research Cutaneous Complications of Artificial Hair Implantation: A Pathological Study
Artificial hair implants can cause severe skin problems, often needing surgical removal.
research Synthetic Hair Reactions and Treatment of Complications: Case Reports
Synthetic hair implants can cause severe scalp problems and removing them improves conditions; natural hair transplants are safer and more effective.