research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
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research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Pathological findings in a case of stiff person syndrome with anti‐GAD antibodies
Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
research PCOS: update and diagnostic approach
The document concludes that more research is needed to fully understand the causes of PCOS.
research New Pharmaceutical Concepts for Sebaceous Gland Diseases: Implementing Today’s Pre-Clinical Data into Tomorrow’s Daily Clinical Practice
New treatments for skin conditions related to the sebaceous gland are being developed based on current research.
research CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
research The intragenic mRNA-microRNA regulatory network during telogen-anagen hair follicle transition in the cashmere goat
The research found that a complex gene network, controlled by microRNAs, is important for hair growth in cashmere goats.
research Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Autoantigen Discovery in the Hair Loss Disorder, Alopecia Areata: Implication of Post-Translational Modifications
New protein changes may be involved in the immune attack on hair follicles in alopecia areata.
research Association between Polymorphisms of OCT1 and Metabolic Response to Metformin in Women with Polycystic Ovary Syndrome
Certain genetic variations in OCT1 may improve insulin sensitivity with metformin in women with 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 Celsr1 and Celsr2 exhibit distinct adhesive interactions and contributions to planar cell polarity
Celsr1 is crucial for skin cell alignment, while Celsr2 has little effect on this process.
research Hemiagenesis of the thyroid gland detected by coincidence—what is the clinical relevance?
THA is a rare condition with no significant clinical consequences if thyroid function is normal.
research Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A*33:01 ; B*14:02; C*08:02 as a genetic marker
A genetic marker linked to a type of hair loss was found in most patients studied.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12∼12.3 in a Chinese family
A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
research Non-rhizobial nodule endophytes improve nodulation, change root exudation pattern and promote the growth of lentil, for prospective application in fallow soil
Certain bacteria can boost lentil growth and improve soil used for farming.
research Early Dengue Virus Infection in Human Skin: A Cycle of Inflammation and Infectivity
Chicken feather gene mutation helps understand human hair disorders.
research Ability to cycle despite severe freezing of gait in atypical parkinsonism in Fahr's syndrome
Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
research Encephalitis lethargica due to Epstein–Barr virus infection
Finasteride may help reduce tic severity in male Tourette syndrome patients.
research Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Footprints of the EADV: a meeting report from the 17th Congress of the European Academy of Dermatology and Venereology
The conference highlighted new dermatological treatments and emphasized early intervention and addressing conditions lacking evidence-based treatments.
research Clonal expansion from standing genetic variation underpins the evolution of an emerging plant pathogen in Australia
The plant pathogen in Australia evolves through existing genetic variation, not new genotypes.
research ESGCT and FSGT Collaborative Congress Helsinki, Finland September 17–20, 2015 Abstracts
The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research A symphony of signals: the intricate role of lncRNAs in dermatological disorders
lncRNAs are important for understanding and treating skin diseases.
research Decay of Skin-Specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, leading to their unique scales and skin features.
research Transcriptomes reveal microRNAs and mRNAs in different photoperiods influencing cashmere growth in goat
Different amounts of daylight affect cashmere growth in goats by changing the activity of certain genes and molecules.
research Convergent Decay of Skin-specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, showing complex skin evolution.