research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
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research Lipoatrophy and severe metabolic disturbance in mice with fat-specific deletion of PPARγ
Mice lacking the PPARγ gene in their fat cells had almost no fat tissue, severe metabolic problems, and abnormal development of other fat-related tissues.
research MON-323 Metastatic Adrenocortical Carcinoma Presenting with Mixed Cushing's and Virilization Syndrome along with Bilateral Pulmonary Emboli
Rapid virilization should be checked for possible ovarian or adrenal cancer.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Transcriptome and proteome combined analysis of wool fiber diameter regulation mechanism
Key genes and pathways affect wool fiber thickness, improving wool quality.
research Is there association between thyroid stimulating hormone levels and the four phenotypes in polycystic ovary syndrome?
Higher thyroid hormone levels may be linked to certain types of polycystic ovary syndrome.
research Effect of body mass index (BMI) on phenotypic features of polycystic ovary syndrome (PCOS) in Singapore women: a prospective cross-sectional study
High BMI worsens hair growth in women with PCOS.
research The Suppression of Very Long Chain Fatty Acids Is Associated with Skin Carcinogenesis
Suppressing very long chain fatty acids is linked to skin cancer.
research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research Detection of metastatic breast carcinoma cells in a bone marrow sample by flow cytometry: case report
Flow cytometry was effective in diagnosing metastatic breast cancer in a bone marrow sample.
research Síndrome dos ovários policísticos: correlação dos fenótipos com as manifestações metabólicas
Older age, obesity, hirsutism, and having children increase metabolic risk in women with PCOS.
research Cytologic atypia in a 53-year-old man with finasteride-induced gynecomastia.
research Recent progress in the effect of ferroptosis of HSCs on the development of liver fibrosis
Inducing ferroptosis in hepatic stellate cells is crucial for treating liver fibrosis.
research Cytologic Aspect of Keratoacanthoma with Granulomatous Inflammation in a Dog
The dog's back mass was a keratoacanthoma with inflammation, successfully removed without recurrence.
research Abnormal differentiation of epidermis in transgenic mice constitutively expressing cyclooxygenase-2 in skin
Overexpression of COX-2 in mice skin causes abnormal skin and hair development.
research FRI220 Primary Bilateral Macronodular Adrenal Hyperplasia: A Rare Cause Of Cushing Syndrome
A rare case of Cushing syndrome was successfully treated with one-sided adrenal gland removal, suggesting personalized treatment is important.
research Characterisation of Myotonic Dystrophy type I cell models and drug evaluation by a cell- based quantification platform.
Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
research Morphologic comparison of cultured human epidermis melanocytes,amelanotic melanocytes from hair follicles and mouse melanoma cells observed by atomic force microscope
Melanin granules can be expelled by exocytosis.
research Integrated Transcriptome Analysis of lncRNA, miRNA, and mRNA Reveals key Regulatory Modules for Polycystic Ovary Syndrome
research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
research A Very Unusual Cause of Diarrhea in a 60-Year-Old Man
The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.
research Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>ALIPH mutation
Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
research Modulation of macrophage functions by ECM-inspired wound dressings – a promising therapeutic approach for chronic wounds
ECM-inspired wound dressings can help heal chronic wounds by controlling macrophage activity.
research Becker's Melanosis and Hypertrichosis*
Becker's Melanosis and Hypertrichosis mainly affects young males, causing brown skin patches and extra hair on one side of the upper body.
research Delayed hair cycle in mnd2 mutant mice lacking HtrA2 serine protease activity
HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
research Plasma Diaphanous Related Formin 1 Levels Are Associated with Altered Glucose Metabolism and Insulin Resistance in Patients with Polycystic Ovary Syndrome: A Case Control Study
Women with Polycystic Ovary Syndrome (PCOS) have lower levels of a substance called DIAPH1 in their blood, which is linked to changes in sugar metabolism and insulin resistance.
research BMI1 is required for melanocyte stem cell maintenance and hair pigmentation
BMI1 is essential for preventing hair greying and maintaining hair color.
research BIOMAGNETISM AS FACTOR IN RED BLOOD CELLS DEFORMATION
Biomagnetic forces can deform red blood cells.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.