research Overexpression of Lnk in the Ovaries Is Involved in Insulin Resistance in Women With Polycystic Ovary Syndrome
Higher Lnk protein levels in ovaries may lead to insulin resistance in women with PCOS.
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240-270 / 1000+ results research The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects
Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
research Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
research Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks
Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
research When Beauty Turns Toxic: Acute Contact Dermatitis and Kidney Injury Following Hair Straightening
Hair straightening products with glyoxylic acid can cause skin irritation and kidney damage.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Nonclassic 21-hydroxylase deficiency
Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
research “Peeling paint” dermatosis in a leukemia patient
A leukemia patient showed skin peeling similar to kwashiorkor, a severe protein deficiency.
research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research TREATMENT OF VALPROATE‐INDUCED HYPERAMMONEMIA
Stopping valproate and using lactulose can quickly treat valproate-induced hyperammonemia.
research Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis
A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
research GH-IGF-I axis in non-obese women with functional hyperandrogenism
The GH-IGF-I axis is likely involved in the hormonal imbalances seen in non-obese women with functional hyperandrogenism.
research A recently characterized, underdiagnosed cause of female androgenetic alopecia and polycystic ovarian syndrome: non-classical 21 hydroxylase deficiency
Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research Inborn Errors of Metabolism
Doctors need to recognize and treat metabolic disorders in children early to prevent serious health issues.
research [Two cases of the rare Cronkhite-Canada syndrome].
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
research A sharply marginated erythematous dermatitis in a toddler
A toddler with a rash and developmental delays improved after treatment for severe malnutrition caused by a diet lacking in protein.
research Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
research Netherton Syndrome
A 17-year-old with Netherton syndrome has dry, itchy skin, brittle hair, and high IgE levels, treated with antihistamines and emollients.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Kinky Hair Disease. Biochemical, Histochemical, and Ultrastructural Studies
research Author reply
Imatinib mesylate can cause skin lightening, especially in Chinese patients, due to its effect on pigment production.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research ANTI‐HAIR KERATIN MONOCLONAL ANTIBODY (HKN‐2)
HKN-2 antibody targets specific skin and hair cells, showing keratin complexity.
research Keratosis Pilaris-like Eruption during Treatment of Chronic Myeloid Leukemia with Tyrosine Kinase Inhibitors: Literature Review and Report of a Case Related to Imatinib
Some leukemia treatments can cause skin reactions similar to keratosis pilaris.
research Nitric oxide-releasing nanocarriers integrated with ginsenoside compound K in dissolvable microneedles for androgenetic alopecia
The new microneedle system promotes hair growth by improving the hair follicle environment.
research Localised Skin Hyperpigmentation as a Presenting Symptom of Vitamin B12 Deficiency Complicating Chronic Atrophic Gastritis
Vitamin B12 deficiency can cause skin darkening and other symptoms, which improve with B12 supplements.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.