research Identification of the Novel Membrane-Associated Protein AgK114 on Hamster Keratinocytes Recognized by a Monoclonal Antibody K114
AgK114 protein helps in hamster skin injury recovery.
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690-720 / 1000+ results research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research Multicentric calcified trichilemmal cysts with alopecia universalis affecting siblings
Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Successful Management of Netherton Syndrome Using IVIG and Dupilumab: A Case Report
IVIG and dupilumab effectively improved symptoms in a child with Netherton syndrome.
research Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities
A new syndrome may link skin, growth, mental, and hair issues.
research SUN-364 Panhypopituitarism Induced Ventricular Tachycardia: Hormonal Relationship All Should Keep in Mind
Hormonal imbalances can cause heart rhythm issues, so checking hormone levels is crucial.
research Secondary Cutis Verticis Gyrata Induced by Long-Term Use of High-Dose Topical Minoxidil
Long-term use of high-dose topical minoxidil can cause thickened, ridged scalp.
research Clinical report of a Holstein's calf with ichthyosis.
A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
research A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research A Case of Hemi‐Isaac's Syndrome
A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
research Severe Abnormalities in the Oral Mucosa Induced by Suprabasal Expression of Epidermal Keratin K10 in Transgenic Mice
Abnormal keratin expression in mice causes severe oral issues, affecting feeding.
research Ovarian and Adrenal Venous Catheterization for Hyperandrogenism
Venous catheterization may help diagnose the cause of female hyperandrogenism when imaging is unclear.
research Vitiligo: Clinical and Laboratory Characteristics in 573 Saudi Patients.
Vitiligo often starts young, is linked to family history and stress, and requires comprehensive care including psychological support.
research Severe Post-Bariatric Kwashiorkor Syndrome: A Case Report
Proper diet, monitoring, and protein supplements are crucial after bariatric surgery to prevent severe malnutrition.
research Nonclassic 21-hydroxylase deficiency
Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research Characterization and Chromosomal Localization of Human Hair-Specific Keratin Genes and Comparative Expression During the Hair Growth Cycle
Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
research SUN-105 A Classic Case of Ovarian Hyperthecosis
Ovarian hyperthecosis can cause high testosterone and symptoms like hair loss, and surgery can help improve these symptoms.
research Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research Twenty nail onychomadesis: An unusual finding in Cronkhite–Canada syndrome
A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
research Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans
The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
research Dermatologic Changes in Experimental Model of Long COVID
Mice with a virus similar to COVID-19 had skin damage, but a special treatment helped repair it.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research Chronic tophaceous gout secondary to self-induced vomiting in anorexia nervosa
A woman with anorexia developed gout from self-induced vomiting.