research First Case of V281+I172N/V281L CYP21A2 Genotype Associated with Congenital Adrenal Hyperplasia: A Case Report from Southern Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
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research Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia
Women with nonclassic congenital adrenal hyperplasia experience more sexual dysfunction and distress.
research Detection of Mutations in the CYP21A2 Gene: Genotype-Phenotype Correlation in Slovenian Couples with Conceiving Problems
Genetic screening can help diagnose and manage infertility in Slovenian couples.
research Determining the Relationship Among Cattle Genotype, Hair Coat Score, and Productivity Through the Investigation of Single Nucleotide Polymorphisms Within Prolactin, Dopamine Receptor D2, and Melatonin Receptor 1A
research Unexpectedly High Carrier Rates and Genotype/Phenotype Correlation: LIPH Mutations in Japanese Autosomal Recessive Woolly Hair/Hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research A Study on the Clinical Profile and Pharmacogenetics of Methotrexate Treatment in Patients with Rheumatoid Arthritis
The 1298CC genotype in RA patients leads to higher methotrexate toxicity, while the 1298AA genotype results in better treatment response.
research Disorders of Keratinization
Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
research Molecular–Clinical Correlations in a Family with Variable Tissue Mitochondrial DNA T8993G Mutant Load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Investigation of Four Novel Male Androgenetic Alopecia Susceptibility Loci: No Association with Female Pattern Hair Loss
No link found between new male baldness genes and female hair loss.
research The Pressing Need for Standardization in Epidemiologic Studies of PCOS Across the Globe
The article concludes that global standardization in PCOS research is crucial for accurate diagnosis and understanding of the condition.
research Analysis of the Relationship Between the Mutation Site of the SLC39A4 Gene and Acrodermatitis Enteropathica: A Case Report and Literature Review
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Autosomal Recessive Monilethrix: Novel Variants of the DSG4 Gene in Three Chinese Families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Next-Generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
research Delayed-Onset Pachyonychia Congenita Caused by a Novel Mutation in the V2 Domain of Keratin 6B
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Filaggrin Mutations as an Archetype for Understanding the Pathophysiology of Atopic Dermatitis
Filaggrin mutations are linked to atopic dermatitis and help explain how genetics and environment affect the disease.
research Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research Prioritizing Susceptibility Genes for the Prognosis of Male-Pattern Baldness with Transcriptome-Wide Association Study
The research identified genes linked to male-pattern baldness and potential drug targets for treatment.
research Uncombable Hair Syndrome and Beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
research Lower Prostate Cancer Risk in Swedish Men with the Androgen Receptor E213 A-Allele
Swedish men with the E213 A-allele of the androgen receptor have a lower risk of prostate cancer.
research Evaluation of Androgen Receptor Gene as a Candidate Gene in Female Androgenetic Alopecia
The androgen receptor gene doesn't help identify women likely to have female pattern hair loss.
research Genetic Association of Complement Component 2 Polymorphism with Systemic Lupus Erythematosus
The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
research Seasonality, Climatic Unpredictability, Food Deprivation, and Polycystic Ovary Syndrome
PCOS may have evolved as an advantage in past environments with food scarcity.
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 Clinical and Molecular Features in a Cohort of Middle Eastern Patients With Epidermolysis Bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Zinc: A Complementary Factor in the Treatment of Chronic Hepatitis C?
Zinc supplementation may help improve treatment outcomes for chronic hepatitis C.
research Vitamin D Receptor Gene Polymorphisms Are Not Associated With Alopecia Areata
Vitamin D receptor gene variations are not linked to alopecia areata.
research Polymorphisms in the Promoter Regions of the CXCL1 and CXCL2 Genes Contribute to Increased Risk of Alopecia Areata in the Korean Population
Certain gene variations increase the risk of alopecia areata in Koreans.
research Association Between Epidermal Growth Factor and Epidermal Growth Factor Receptor Gene Polymorphisms and Susceptibility to Alopecia Areata in Korean Population
Certain gene variations might increase the risk of a hair loss condition in Koreans.