research Morphological Approach to Hair Disorders
Accurate clinical, histological, and genetic methods are key for understanding and treating hair disorders.
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research Smad4-dependent desmoglein-4 expression contributes to hair follicle integrity
Smad4 is important for healthy hair follicles because it helps produce a protein needed for hair to stick together and grow.
research Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82
Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Great Expectations: Induced pluripotent stem cell technologies in neurodevelopmental impairments
iPSCs help understand and treat neurodevelopmental disorders.
research OsUEV1B, an Ubc enzyme variant protein, is required for phosphate homeostasis in rice
OsUEV1B protein is essential for controlling phosphate levels in rice.
research Formation of the cornified envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
research Nonclassical Congenital Adrenal Hyperplasia and Pregnancy
Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
research Improving human forensics through advances in genetics, genomics and molecular biology
DNA profiling in forensics has improved, but predicting physical traits and ancestry from DNA has limitations and requires ethical consideration.
research The genetics of hair shaft disorders
The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research Genetically separable determinants of hair keratin gene expression
Mutations in the Whn gene affect hair keratin gene expression differently.
research Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research A Prospective Study of the Prevalence of Nonclassical Congenital Adrenal Hyperplasia among Women Presenting with Hyperandrogenic Symptoms and Signs
About 2.2% of women with symptoms of high male hormones have a mild form of congenital adrenal hyperplasia, and measuring a specific hormone level can accurately diagnose it.
research 1α,25-Dihydroxyvitamin D3 Modulates the Hair-Inductive Capacity of Dermal Papilla Cells: Therapeutic Potential for Hair Regeneration
Vitamin D3 can help improve hair growth by enhancing the function of specific skin cells and could be useful in hair regeneration treatments.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Estrogens and the hair follicle. Ostrogene und der Haarfollikel
Estrogens generally inhibit hair growth and improve skin quality, but their exact effects on hair follicles are complex and not fully understood.
research Combinatorial Biosynthesis of Sulfated Benzenediol Lactones with a Phenolic Sulfotransferase from Fusarium graminearum PH-1
A fungal enzyme was used to make compounds more soluble, aiding drug discovery and crop protection.
research Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.
Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
research Transcriptome Profiling of Human Follicle Dermal Papilla Cells in response to Porphyra-334 Treatment by RNA-Seq
Porphyra-334 may help reduce wrinkles and promote hair growth.
research A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease
A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
research White piedra and pediculosis capitis in the same patient
A patient had both white piedra and head lice, showing their differences.
research Long-Term Survival of Type XVII Collagen Revertant Cells in an Animal Model of Revertant Cell Therapy
Revertant cell therapy shows promise for treating type XVII collagen deficiency, but better cell selection methods are needed.
research Premature aging syndromes: From patients to mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
research Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review
Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.
research Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
research Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives
Promising treatments for EBS include anti-inflammatory drugs, antibiotics, creams, mTOR inhibitors, and gene editing, but more trials are needed.
research Role of foxn1 in Xenopus laevis thymopoiesis.
FOXN1 is crucial for thymus development and immune response in Xenopus laevis.
research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
AE can have varied symptoms and genetic causes, but zinc therapy helps.