research Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
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research Dimorphic regulation of the MafB gene by sex steroids in hamsters (Mesocricetus auratus)
Sex steroids affect the MafB gene differently in male and female hamsters.
research Papilledema and Hypervitaminosis A
Excessive vitamin A can cause symptoms that mimic serious brain conditions.
research Tumor Necrosis Factor-Alpha and Polycystic Ovarian Syndrome: A Clinical, Biochemical, and Molecular Genetic Study
High levels of TNF-α may contribute to obesity and insulin resistance in PCOS, but not due to the C850T genetic variation.
research Cell fate decisions: emerging roles for metabolic signals and cell morphology
Metabolic signals and cell shape influence how cells develop and change.
research Expression of AKT1 along with AKT2 in granulosa-lutein cells of hyperandrogenic PCOS patients
The study found that women with hyperandrogenic PCOS have higher levels of AKT1 and AKT2 proteins in their cells, which may lead to cell dysfunction.
research 848 Genes implicated in lipid & metabolic regulation downregulated in CCCA
848 genes related to fat and metabolism are less active in people with Central Centrifugal Cicatricial Alopecia.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Hyperandrogenemia in an ethnically heterogeneous cohort of Midwestern United States diabetic gestations
Exposure to fatty acids significantly increased androgen levels in female dogs, suggesting a link to conditions like insulin resistance and PCOS.
research Hair Tissue Mineral Analysis and Metabolic Syndrome
research Defective control of growth rate and cell diameter in tip-growing root hairs of therhd4mutant ofArabidopsis thaliana
The RHD4 gene is crucial for consistent root hair growth in Arabidopsis thaliana.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
research 7696 Ovarian Steroid Cell Tumor Presenting as Non-classical Adrenal Hyperplasia
Early detection of ovarian steroid cell tumors is crucial to prevent lasting symptoms.
research Skin as a Metabolic Organ: Dermatologic Markers of Morbid Obesity and Their Role in Risk Stratification and Treatment Monitoring
Skin changes in obesity can indicate metabolic issues but aren't reliable for assessing risk or monitoring treatment.
research Hyperadrenocorticism in a ferret.
The ferret had hyperadrenocorticism and other health issues like heart, liver, and kidney problems.
research The impact of biomaterial characteristics on macrophage phenotypes in tissue engineering: a review
Biomaterial characteristics can influence macrophages to promote healing and improve tissue regeneration.
research Machine learning-based steroid metabolome analysis reveals three distinct subtypes of polycystic ovary syndrome and implicates 11-oxygenated androgens as major drivers of metabolic risk
PCOS has three subtypes, with 11-oxygenated androgens increasing metabolic risk.
research PREVALENCE OF NON-ALCOHOLIC FATTY LIVER DISEASE IN WOMEN WITH POLYCYSTIC OVARY SYNDROME AND ITS CORRELATION WITH METABOLIC SYNDROME
Women with PCOS are more likely to have fatty liver disease and worse metabolic health.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Tissue fibrosis associated depletion of lipid‐filled cells
Fibrosis causes loss of important fat cells, affecting tissue function.
research Cortisol Enhances the Expression of mac25/Insulin-Like Growth Factor-Binding Protein-Related Protein-1 in Cultured Osteoblasts**This work was supported by NIDDK Grant DK-45227 and a scholarship (to R.C.P.) from Fundacao Coordenacao de Aperfeicoa mento de Pessoal de Nivel Superior (CAPES), Universidade de Sao Paulo (Sao Paulo, Brazil).
Cortisol increases a specific protein in bone cells, which may help explain its negative effects on bone.
research Raising threshold for diagnosis of polycystic ovary syndrome excludes population of patients with metabolic risk
Changing the diagnosis criteria for PCOS might miss women at risk for related health issues.
research Ovarian morphology is associated with insulin resistance in women with polycystic ovary syndrome: a cross sectional study
Larger ovarian size is linked to higher insulin resistance in women with PCOS.
research ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE
Robertsonian translocation can cause recurrent miscarriages.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research 311 Single-cell transcriptomics reveals distinct molecular programs in folliculotropic mycosis fungoides
Folliculotropic mycosis fungoides has unique molecular features and cell interactions that could guide targeted therapy.
research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
research Megestrol Acetate Increases the Proliferation, Migration, and Adipogenic Differentiation of Adipose-Derived Stem Cells via Glucocorticoid Receptor
Megestrol acetate helps fat-derived stem cells grow, move, and turn into fat cells through a specific receptor.