research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
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research Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Omenn Syndrome in a 10-Month-Old Male With Athymia and VACTERL Association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Cartilage to Bone Transformation During Fracture Healing Is Coordinated by the Invading Vasculature and Induction of the Core Pluripotency Genes
Blood vessels and specific genes help turn cartilage into bone when bones heal.
research Skin Shedding and Tissue Regeneration in African Spiny Mice (Acomys)
African spiny mice can regenerate skin, hair, and cartilage, but not muscle, and their unique abilities could be useful for regenerative medicine.
research Global Adiposity Rather Than Abnormal Regional Fat Distribution Characterizes Women with Polycystic Ovary Syndrome
Women with PCOS have overall higher body fat, not abnormal fat placement, and more insulin resistance.
research Adverse Effects of Voriconazole: Over a Decade of Use
Voriconazole can cause serious side effects, especially in long-term use.
research A Position Effect on TRPS1 Is Associated with Ambras Syndrome in Humans and the Koala Phenotype in Mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research Clinical Management of Patients with ASXL1 Mutations and Bohring-Opitz Syndrome, Emphasizing the Need for Wilms Tumor Surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research The Regeneration Blastema of Lizards: An Amniote Model for the Study of Appendage Replacement
Lizards can regrow their tails, and studying this process helps understand scar-free healing and limb regeneration.
research Balint’s Syndrome—Missed or Mistaken?
The document concludes that early diagnosis of Balint's syndrome is crucial for effective treatment and that understanding drug interactions, like between ritonavir and statins, is important for patient care.
research Lipid Nanoparticles for Topical and Transdermal Delivery of Pharmaceuticals and Cosmeceuticals
Lipid nanoparticles improve drug delivery through the skin, offering stability, controlled release, and better compatibility with skin.
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 Pictorial Essay on Hair Loss Due to Head Bones Displacement
The essay suggests hair loss might be caused by changes in skull bones.
research Rheumatoid Arthritis and Gouty Arthritis in an Adult Patient with Down's Syndrome
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
research Vitamin D and Human Health: Lessons from Vitamin D Receptor Null Mice
Mice without the vitamin D receptor have bone issues and other health problems, suggesting vitamin D is important for preventing various diseases in humans.
research Treatment of Invasive Aspergillosis with Itraconazole
Itraconazole is potentially effective for treating invasive aspergillosis, but more research is needed.
research WNT Signaling in the Control of Hair Growth and Structure
The research shows that a gene called Wnt3 affects hair growth and structure, causing short hair and balding when overactive.
research Safety of Dermatologic Medications in Pregnancy and Lactation
Some skin medications are safe during pregnancy and breastfeeding, but others can harm the baby and should be avoided.
research Molecular Biology of Hair Morphogenesis: Development and Cycling
Understanding hair growth involves complex interactions between molecules and could help treat hair disorders.
research WNT Signaling in Disease
The WNT signaling pathway is important in many diseases and targeting it could offer new treatments.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research Acne-Associated Syndromes: Models for Better Understanding of Acne Pathogenesis
The document concludes that certain genetic mutations and dietary factors are involved in acne development, and treatments like isotretinoin and diet changes can help manage it.
research Control of Pelage Hair Follicle Development and Cycling by Complex Interactions Between Follistatin and Activin
Follistatin helps hair growth and cycling, while activin prevents it.
research Wnt Signaling in Skin Organogenesis
Wnt signaling is crucial for skin and hair development and its disruption can cause skin tumors.
research FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
research Neuronal Plasticity of the Brain-Skin Connection: Stress-Triggered Up-Regulation of Neuropeptides in Dorsal Root Ganglia and Skin via Nerve Growth Factor-Dependent Pathways
Stress increases certain chemicals in the skin and nerves, which might worsen skin conditions.
research Hair Follicle: A Novel Source of Multipotent Stem Cells for Tissue Engineering and Regenerative Medicine
Hair follicle stem cells are a promising source for tissue repair and treating skin or hair diseases.
research Adverse Reactions to Oral Retinoids: An Update
Oral retinoids can cause side effects ranging from mild to severe, including birth defects, and require careful monitoring and contraception.