research Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
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research Cisd2 deficiency impairs neutrophil function by regulating calcium homeostasis via Calnexin and SERCA
Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research Abstract 2469: Increased cathepsin B expression in cultured tuberous sclerosis skin tumor cells and patient tumor tissues
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research A Case of Cutaneous Focal Mucinosis With Follicular Induction
A man with a skin nodule was diagnosed with a rare skin condition called cutaneous focal mucinosis, which can be confused with other skin cancers.
research Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
research 236 Wnt/planar cell polarity impairment and the genetics of yellow nail syndrome
Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
research An Unusual Case of Diarrhea, Dysgeusia, and Grainy and Nodular Mucosa
A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
research Polycystic Ovary Syndrome and Cardiovascular Disease: A Premature Association?
While PCOS might increase the risk of heart disease, there's not strong evidence to prove it causes earlier heart problems.
research Relative Prevalence of Different Androgen Excess Disorders in 950 Women Referred because of Clinical Hyperandrogenism
Most women referred for excess male hormone symptoms had polycystic ovary syndrome (PCOS), with other conditions being less common.
research The pathophysiology of polycystic ovary syndrome
Insulin resistance is a key factor in polycystic ovary syndrome, but genetics may also contribute.
research Kinase Inhibition with BAY 43–9006 in Renal Cell Carcinoma
BAY 43-9006 helps control kidney cancer growth but doesn't significantly increase overall survival.
research Development of polycystic ovary syndrome: involvement of genetic and environmental factors
PCOS is caused by both genetics and environmental factors like diet and obesity.
research Androgenetic Alopecia in Women
Androgenetic alopecia in women needs more research and better management strategies.
research Androgen excess is the key element in polycystic ovary syndrome
Too much male hormone is the main cause of Polycystic Ovary Syndrome.
research Diagnosis of Polycystic Ovary Syndrome
The definition of Polycystic Ovary Syndrome may change with new research, and careful screening is key for managing the condition.
research Health and fertility in World Health Organization group 2 anovulatory women
Women with PCOS may take longer to get pregnant but can have a normal family size, and should manage their overall health to reduce long-term health risks.
research Infertility in Polycystic Ovary Syndrome: Focus on Low-Dose Gonadotropin Treatment
Low-dose gonadotropin treatment is effective for infertility in women with PCOS, leading to high ovulation rates and comparable pregnancy rates with fewer complications.
research Lithium therapy associated with hidradenitis suppurativa: Case report and a review of the dermatologic side effects of lithium
Lithium therapy may cause skin problems like hidradenitis suppurativa and other side effects, which can improve after stopping the medication.
research Albendazole treatment of echinococcosis in humans: Effects on microsomal metabolism and drug tolerance
Albendazole treatment for echinococcosis can cause serious side effects and requires close monitoring.
research Ovarian Hypertension: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome is linked to higher risk of hypertension and heart disease.
research Elevated Free Testosterone Levels in Women With Acne
Some women with acne have higher levels of free testosterone, which might suggest using hormonal treatments for acne.
research Management of Hirsutism
Antiandrogens, particularly flutamide and CPA, are most effective for treating hirsutism, with long-term use needed for best results.
research Comparison of Diane 35 and Diane 35 plus finasteride in the treatment of hirsutism
Diane 35 plus finasteride is more effective in reducing hair growth and androgen levels, but may decrease libido.
research Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess
Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.