research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
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research Identification of Key Genes and Signaling Pathways Related to Hetian Sheep Wool Density by RNA-Seq Technology
Certain genes and pathways are linked to the production of finer and denser wool in Hetian sheep.
research Ectodysplasin A (EDA) Signaling: From Skin Appendage to Multiple Diseases
EDA signaling is linked to skin disorders, various cancers, and liver disease.
research Combined Drug Triads for Synergistic Neuroprotection in Retinal Degeneration
Using three different drugs together may better treat eye diseases like glaucoma and macular degeneration.
research Off-Label Uses of Retinoids in Dermatology
Retinoids are effective for various skin conditions and hair loss but have serious side effects, so low doses are recommended.
research Off-Label Use of Botulinum Toxin in Dermatology: Current State of the Art
Botulinum toxin is effective for various skin conditions, but more research and awareness of side effects are needed.
research Differential Expression of KRT83 Regulated by the Transcription Factor CAP1 in Chinese Tan Sheep
CAP1 decreases the expression of a hair-related protein in young Tan sheep's skin.
research Familial 1q22 Microduplication Associated With Psychiatric Disorders, Intellectual Disability, and Late-Onset Autoimmune Inflammatory Response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Roux-En-Y Gastric Bypass in the Treatment of Non-Classic Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency
Gastric bypass surgery improved a woman's hormonal disorder without the need for medication.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research Hair Microscopy: An Easy Adjunct to Diagnosis of Systemic Diseases in Children
Hair microscopy is a simple and cost-effective method to help diagnose systemic diseases in children.
research Confluent and Reticulated Papillomatosis Associated with Polycystic Ovarian Syndrome
Hormonal imbalances in Polycystic Ovarian Syndrome (PCOS) might trigger a rare skin disorder called Confluent and Reticulated Papillomatosis (CRP), so dermatologists should consider checking for PCOS in CRP patients.
research Key Factors in the Complex and Coordinated Network of Skin Keratinization: Their Significance and Involvement in Common Skin Conditions
Understanding keratinization is crucial for treating skin conditions like ichthyoses and psoriasis.
research Central Centrifugal Cicatricial Alopecia in Black Men: A Case Series Highlighting Key Clinical Features
The document concludes that early and accurate diagnosis of hair loss on the top of the scalp in Black men is important to distinguish CCCA from other types of hair loss.
research TRPV3 Ion Channel: From Gene to Pharmacology
The TRPV3 ion channel is important for skin and hair health and could be a target for treating skin conditions.
research Two Mutations at KRT74 and EDAR Synergistically Drive the Fine-Wool Production in Chinese Sheep
Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
research High-Throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research Presence of Uterine Leiomyomas Has No Significant Impact on Gene Expression Profile in the Scalp of Patients with Central Centrifugal Cicatricial Alopecia
Uterine leiomyomas don't significantly change gene expression in the scalp of people with Central Centrifugal Cicatricial Alopecia.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research Familial Frontal Fibrosing Alopecia
Familial frontal fibrosing alopecia is rare, mostly affects women, and often occurs between sisters or mother-daughter pairs.
research De Novo Filament Formation by Human Hair Keratins K85 and K35 Follows a Filament Development Pattern Distinct from Cytokeratin Filament Networks
Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.
research Immunostaining Study of Cytokeratins in Human Hair Follicle Development
The study found that specific proteins are markers of hair follicle development in human fetuses.
research 66-Year-Old Woman With Painless Vesicular Lesions
A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.
research Challenges Associated With the Identification of Germline Variants on Myeloid Malignancy Genomic Profiling—A Singaporean Experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research Unveiling a Shared Precursor Condition for Acne Keloidalis Nuchae and Primary Cicatricial Alopecias
A condition with certain scalp changes may come before acne keloidalis nuchae and other similar hair loss disorders.
research Beard Alopecia: An Updated and Comprehensive Review of Etiologies, Presentation and Treatment
Different causes of beard hair loss have various treatments, including medications, lifestyle changes, and procedures to stimulate hair growth.
research Evaluation of Clinical and Oral Findings in Patients With Epidermolysis Bullosa
People with Epidermolysis bullosa have many health problems including poor oral health, which is often neglected due to other medical issues.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.