research Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
Search
for
Sort by
Research
570-600 / 1000+ results 
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 Adolescent Polycystic Ovary Syndrome
Early diagnosis and multidisciplinary care are crucial for managing PCOS in adolescents.
research Chronic Diarrhea and Weight Loss in a 27-Year-Old: Highlighting Collagenous Gastritis as a Rarely Encountered Entity
Collagenous gastritis is a rare condition causing chronic diarrhea and weight loss, often misdiagnosed due to nonspecific symptoms.
research Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Association between angiotensin‐converting enzyme gene insertion deletion polymorphism and androgenetic alopecia susceptibility among Egyptian patients: A preliminary case‐controlled study
Certain gene variations may increase the risk of hair loss in Egyptians.
research Two familial cases of Olmsted-like syndrome with a G573V mutation of theTRPV3gene
A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
research 461: THE PROFIBROGENIC ROLE OF NEUTROPHIL EXTRACELLULAR TRAPS IN STENOTIC CROHN'S DISEASE: A NEW ANTIFIBROTIC TARGET?
Targeting NETs may help reduce fibrosis in Crohn's disease.
research Molecular Aspects of Polycystic Ovarian Syndrome in Female Population in Karnataka at the Southwestern Region of India
PCOS in Karnataka is influenced by genetics, lifestyle, obesity, and diabetes.
research Visual Diagnosis
A girl with Crohn's disease had a hairball causing bowel obstruction, which was removed, and she recovered well.
research Developmental origin of polycystic ovary syndrome - a hypothesis
The hypothesis suggests that PCOS may start early in life due to genetic and environmental factors, influencing future reproductive and metabolic problems.
research MON-194 A Case Of Sertoli Cell Tumor In A Patient With Familial Partial Lipodystrophy Type 2
A rare ovarian tumor was found in a young woman with a genetic fat disorder.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Spontaneous Squamous Cell Carcinoma Induced by the Somatic Inactivation of Retinoblastoma and Trp53 Tumor Suppressors
Inactivating both p53 and Rb genes in mice speeds up aggressive skin cancer development.
research Androgenic alopecia associated with the HSD3B1 (1245a>c) in overweight women with polycystic ovarian syndrome
The HSD3B1 variant increases hair loss risk in overweight women with PCOS.
research Overview of Polycystic Ovary Syndrome (PCOS)
research Regulation of self-renewal in colorectal cancer cell models
Reducing SOX2 in colorectal cancer cells decreases tumor growth and self-renewal.
research Studies on basal cell carcinoma with emphasis on the role of the human homologue of the Drosophila patched gene
PTCH gene mutations contribute to basal cell carcinoma development.
research Pathophysiology and Nutritional Approaches in Polycystic Ovary Syndrome (PCOS): A Comprehensive Review
Eating a Mediterranean diet and taking certain supplements may improve symptoms of PCOS.
research Cellular senescence and polycystic ovary syndrome: mechanisms and therapeutic strategies from a new perspective
Targeting senescent cells may offer new treatments for PCOS.
research Physiopathology of polycystic ovary syndrome in endocrinology, metabolism and inflammation
PCOS involves hormonal imbalance, cysts, and ovulation issues, affecting health and increasing disease risks.
research Ovarian Morphology Is a Marker of Heritable Biochemical Traits in Sisters with Polycystic Ovaries
Polycystic ovarian shape is a genetic sign of PCOS and its hormonal and metabolic features can be inherited.
research PA11 A rare case of a severe papulopustular dermatosis secondary to a germline EGFR mutation
A rare genetic mutation in the EGFR gene caused severe skin issues and other health problems in a Slovakian girl, who is now 4 years old and receiving care.
research Data from Spontaneous Squamous Cell Carcinoma Induced by the Somatic Inactivation of Retinoblastoma and Trp53 Tumor Suppressors
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.
research 266 Myristoylphorbol Acetate (MPA) Enhances Metastasis Via Up-regulation of Eph A2 Transcription Activity
MPA increases cancer spread by boosting Eph A2 activity.
research Primary cicatricial alopecia and inflammatory bowel disease – is there a link?
Some people with primary cicatricial alopecia also have inflammatory bowel disease, suggesting a possible connection.
research Polycystic ovary syndrome (PCOS), an inflammatory, systemic, lifestyle endocrinopathy
PCOS is a complex condition in women that can lead to health issues, and lifestyle changes are the best management approach.
research New insights into the functions of Cox-2 in skin and esophageal malignancies
Cox-2 significantly contributes to the development and progression of skin and esophageal cancers.
research Decision letter: Type XVII collagen coordinates proliferation in the interfollicular epidermis
Type XVII collagen may help prevent skin aging.