research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
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480-510 / 1000+ resultsresearch Skin Development and Disease: A Molecular Perspective
Understanding molecular processes in skin development is key to creating targeted treatments for skin disorders.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
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 Abstracts from the 55th European Society of Human Genetics (ESHG) 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 Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype
People with Collagen VI-related myopathies may often have hair loss and scalp issues.
research Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data
Hair greying is mainly influenced by age, with genetics playing a smaller role.
research Wnt/β-catenin signalling: function, biological mechanisms, and therapeutic opportunities
The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.
research Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form
A genetic change in the EDAR gene causes the unique hair traits found in East Asians.
research SUN-174 Giant Bilateral Myelolipomas in a Patient with Congenital Adrenal Hyperplasia
A patient with untreated congenital adrenal hyperplasia had large benign tumors in her adrenal glands removed, improving her symptoms.
research Trichoblastoma with sebaceous and sweat gland differentiation
A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.
research Finasteride-Induced Pseudoporphyria
Finasteride caused blisters on hands and feet.
research Treatment of monilethrix with oral minoxidil
Oral minoxidil shows promise in treating monilethrix-related hair loss.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research Monilethrix: A case report imaged by trichoscopy, reflectance confocal microscopy and histopathology
Advanced imaging techniques are crucial for accurately diagnosing Monilethrix, a rare hair disorder.
research A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats
A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
research Premature graying of hair
Premature graying of hair may suggest health issues and currently lacks effective treatments.
research A multicenter evaluation of 10% sulfacetamide sodium in a 10% urea vehicle scalp treatment lotion and a 10% urea deep cleansing antibacterial shampoo for the treatment of seborrheic dermatitis of the scalp
The lotion and shampoo effectively treated scalp seborrheic dermatitis.
research The oestrogen receptor 2 (ESR2) gene in female-pattern hair loss: replication of association with rs10137185 in German patients
ESR2 gene linked to female-pattern hair loss.
research Androgen excess: a hallmark of polycystic ovary syndrome
Excess androgens may cause PCOS, not just be a symptom.
research High‐Potency Topical Steroids: An Effective Therapy for Chronic Scalp Inflammation in Rapp–Hodgkin Ectodermal Dysplasia
Strong skin creams work well for long-term scalp inflammation in Rapp-Hodgkin Ectodermal Dysplasia.
research Hormonal Control of Cardiac Action Potential Phase 1 Currents in the Brugada Syndrome
Androgens may increase arrhythmias in Brugada Syndrome, while Finasteride could reduce them.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research Epidemiological and investigative study of premature graying of hair in higher secondary and pre-university school children
Kids with early graying hair often have low levels of calcium, ferritin, and vitamin D3.
research Loose Anagen Hair Syndrome in Black‐Haired Indian Children
Loose Anagen Hair Syndrome is found in black-haired Indian children and is often missed, especially in boys.
research A case of red lunulae after haematopoietic stem cell transplantation
Adjusting the medication tacrolimus resolved a boy's red nail beds after a stem cell transplant.
research Animal models of alopecia
The best animal model for studying male-pattern baldness is the stumptailed macaque, not rats or mice.
research The Cycle Characteristics and Outcomes of Infertile Nonclassic 21-Hydroxylase Deficiency Patients Undergoing Ovarian Stimulation for In Vitro Fertilization
Women with nonclassic 21-hydroxylase deficiency can have successful pregnancies through IVF, with certain factors affecting their chances.
research Alopecia in women submitted to childhood X-ray epilation for tinea capitis treatment
Women treated with X-ray for scalp fungus as children had a higher chance of hair loss, especially with higher radiation doses and severe fungus infections.