research Nonclassic Congenital Adrenal Hyperplasia
The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.
Search
for
Sort by
Research
300-330 / 1000+ results 
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.
research CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS)
Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
research DNA phenotyping: current application in forensic science
DNA phenotyping helps predict physical traits from DNA with varying accuracy and requires careful ethical and legal handling.
research Genetic prediction of male pattern baldness
Genetic factors can help predict male pattern baldness risk.
research Identification of drug-specific public TCR driving severe cutaneous adverse reactions
Researchers found a specific immune receptor in patients that causes severe skin reactions to a drug.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Testosterone and the Brain: From Cognition to Autism
Testosterone affects brain functions and contributes to sex differences, influencing conditions like autism.
research Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (Hrrh-R) in the Hairless Gene (Hr)
A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.
research Nuclear Topology, Epigenetics, and Keratinocyte Differentiation
Nuclear shape and chromatin changes affect gene expression in skin cell differentiation.
research Integrative skin phenotypic and transcriptomic analyses reveal candidate genes for coat color and fiber length in four Chinese goat breeds (Capra hircus)
Genes linked to coat color and fiber length in Chinese goats were identified.
research Genome-Wide Association Studies for Immunoglobulin Concentrations in Colostrum and Serum in Chinese Holstein
Certain genes influence immunoglobulin levels in Chinese Holstein cows, which can improve calf health.
research Genome-Wide Association Studies for Immunoglobulins in Colostrum and Serum in Chinese Holstein
Selective breeding can enhance immunity in dairy cattle.
research Spinal and bulbar muscular atrophy: pathogenesis and clinical management
Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
research Diagnostic approach to low‐renin hypertension
Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery
Early diagnosis and multidisciplinary care, including orthopedic surgery, can prevent long-term disability in IFAP syndrome.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research Keratin disorders: from gene to therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Polycystic Ovary Syndrome in Adolescents
The document concludes that diagnosing PCOS in teenagers is difficult and should focus on specific hormone levels and menstrual irregularities, while also considering treatment for symptoms and related health issues.
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 Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research Complementary evolution of coding and noncoding sequence underlies mammalian hairlessness
Hairless mammals have genetic changes in both their protein-coding and regulatory sequences related to hair.
research Non-invasive human skin transcriptome analysis using mRNA in skin surface lipids
A new non-invasive method can analyze skin mRNA to understand skin diseases better.
research Disease causing homozygous variants in the human hairless gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Genotypic and Phenotypic Study of PDCD4 gene Concerning micro RNA-21 and micro RNA-449b Polymorphism in Breast Cancer
PDCD4 protein levels, affected by genetics and breastfeeding, may predict breast cancer treatment response.
research Australasian Society for Dermatology Research Meeting, May 2006
The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.