research Celsr1 and Celsr2 exhibit distinct adhesive interactions and contributions to planar cell polarity
Celsr1 is crucial for skin cell alignment, while Celsr2 has little effect on this process.
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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 Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations
NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
research Hair shaft structures in EDAR induced ectodermal dysplasia
The EDAR gene mutation leads to thinner and more deformed hair shafts.
research Dermatological medications and local therapeutics
Use some skin medications with caution during pregnancy; avoid strong steroids, certain eczema treatments, and systemic retinoids, but many topical treatments and nasal sprays are safe.
research Melatonin Receptors and Their Role in Human Diseases
Melatonin receptors, found in many body parts, can help treat various diseases like depression and diabetes due to their effects on inflammation, tumor progression, sleep disorders, and body mass regulation.
research Wnt10a Is a Candidate as a Non-Cellular Agent for Induction of Dental Pulp Regeneration with Dentine-Inducing Capacity.
Wnt10a may help regenerate dental pulp and form dentine.
research Miscellaneous conditions
The document describes various skin conditions, their features, and treatments but lacks detailed study size information.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research Revisión de compositos de biocerámicas y biopolímeros mediante electrohilado para su uso potencial como andamios para la sustitución de piel
Bioceramic and biopolymer composites are promising for advanced wound care, promoting healing and cell growth.
research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Facial Feminization Surgery and Facial Gender Confirmation Surgery
The document concludes that individualized Facial Feminization Surgery plans and comprehensive care are crucial for successful outcomes.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Acne and acneiform eruptions
Early treatment of acne is crucial to prevent scarring and psychological effects.
research Interplay between EDA-EDAR and WNT signalling pathways in the development of skin appendages in hypohidrotic ectodermal dysplasia
Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
research Hepatitis C‐related mixed type vitiligo in a patient with Ivemark syndrome
A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
research Dusko Ilic† explores the latest developments in the field of stem cell research and regenerative medicine
Stem cell research and regenerative medicine have made significant advancements in treating various diseases and conditions.
research Ectodysplasin-A (EDA) Signaling Cross-Talk in Skeletogenesis
The EDA pathway plays a key role in bone development by interacting with other signaling pathways.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
research The frequency of polycystic ovary syndrome in women with prediabetes compared with normoglycemic women
Women with prediabetes may have a higher risk of PCOS-like changes, especially if they have impaired glucose tolerance.
research All ABSTRACT
Personalized, minimally invasive treatments improve urology outcomes.
research Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia
Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research Rhamnose-mediated modulation of hair follicle growth: insights from chemical genomics
Rhamnose may help hair growth and pigmentation, making it a potential treatment for hair loss.
research Understanding Polycystic Ovary Syndrome
PCOS affects women's hormones and metabolism, but can be managed with lifestyle changes and treatments.
research Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome (PCOS) Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment
Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
research Analysis of androgen receptor expression and activity in the mouse brain
Androgen receptors in the mouse brain may explain cognitive and mood changes in prostate cancer treatment.