research The Photosensitive Patient: Could It Be Pellagra?
Pellagra, caused by niacin deficiency and presenting with photosensitivity, should be considered in patients with relevant symptoms and risk factors.
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research Congenital Adrenal Hyperplasia: A Comprehensive Review
The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
research Lichen Planopilaris in Women: A Retrospective Review at Mayo Clinic (1992-2016)
Women with lichen planopilaris often have thyroid disease, depression, anxiety, and may respond to treatment with slowed disease progression.
research Psoriasis and Psoriatic Arthritis Patient Productivity Burden in the United States
Psoriasis patients have more comorbidities, including autoimmune diseases and other health issues, than those without psoriasis.
research Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair
Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
research Anticonvulsant Hypocalcaemia
Long-term use of seizure medications can disrupt calcium metabolism, but this can be treated with vitamin D or UV light and does not affect seizure control.
research News in Brief
A new protein linked to Alzheimer's was discovered, and a hair loss treatment showed effectiveness but had some sexual side effects.
research Virilism and Ectopic Expression of HSD17B5 in Mature Cystic Teratoma
A woman's mature cystic teratoma caused her virilization by producing testosterone.
research Two Novel MBTPS2 Missense Mutations Impairing S2P Proteolytic Activity Lead to IFAP Syndrome With New Phenotypic Anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Non-Edg Family LPA Receptors: The Cutting Edge of LPA Research
New LPA receptors (LPA4, LPA5, LPA6) have diverse roles in the body.
research Roles of Wnt7a in Embryo Development, Tissue Homeostasis, and Human Diseases
Wnt7a protein is crucial for development and tissue maintenance and plays varying roles in diseases and potential treatments.
research Hairless Is a Nuclear Receptor Corepressor Essential for Skin Function
Hairless protein is crucial for healthy skin and hair, and its malfunction can cause hair loss.
research Fgf9 From Dermal γδ T Cells Induces Hair Follicle Neogenesis After Wounding
A protein from certain immune cells is key for new hair growth after skin injury in mice.
research Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Revisited: An Update with a Special Focus on Adolescent and Adult Women
The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
research The Browning of White Adipose Tissue: Some Burning Issues
Turning white fat into brown-like fat could help fight obesity and type 2 diabetes.
research Diagnostic Value of VDR in Bone Metastasis and Prognosis of Patients with Breast Cancer and Expression Correlation Between Vitamin D Receptor and Hairless Protein
Low Vitamin D receptor levels in breast cancer are linked to worse outcomes and more bone metastases, and could be a marker for prognosis.
research Role of Cholesterol Sulfate in Epidermal Structure and Function: Lessons from X-Linked Ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research Phosphatidylinositol-Specific Phospholipase C2 Functions in Auxin-Modulated Root Development
A protein called PLC2 is important for the growth and development of plant roots influenced by auxin.
research Low Serum Biotinidase Activity in Children with Valproic Acid Monotherapy
Children taking higher doses of valproic acid had lower biotinidase activity, which may lead to biotin deficiency, but biotin supplements could help.
research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Physical Changes, Laboratory Parameters, and Bone Mineral Density During Testosterone Treatment in Adolescents with Gender Dysphoria
Testosterone treatment effectively causes male physical development in transgender male adolescents but may lead to side effects like acne, higher BMI and blood pressure, lower good cholesterol, and decreased bone density.
research The Hairless Gene of the Mouse: Relationship of Phenotypic Effects with Expression Profile and Genotype
Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
research Down-Regulation of Melanocortin Receptor Signaling Mediated by the Amino Terminus of Agouti Protein in Xenopus Melanophores
Agouti protein affects melanocortin receptors through competitive antagonism and receptor down-regulation.
research A Novel Splice Site Mutation in LIPH Identified in a Japanese Patient with Autosomal Recessive Woolly Hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Involvement of the Edar Signaling in the Control of Hair Follicle Involution (Catagen)
Edar signaling is crucial for controlling hair growth and regression.
research The Diagnosis of Nonclassic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Based on Serum Basal or Post-ACTH Stimulation 17-Hydroxyprogesterone Can Lead to False-Positive Diagnosis
Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
research Decision Letter: Human Biallelic MFN2 Mutations Induce Mitochondrial Dysfunction, Upper Body Adipose Hyperplasia, and Suppression of Leptin Expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research The Association of Serum Adipokines, Insulin Resistance and Vitamin D Status in Male Patients with Androgenetic Alopecia
Higher leptin and lower vitamin D levels may contribute to male pattern baldness.
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 Association of Ferritin and Vitamin D (Calciferol) Deficiency with Female Pattern Hair Loss
Low vitamin D and ferritin levels are linked to female hair loss.