research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
Search
for
Sort by
Research
660-690 / 1000+ results 
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Autoimmune Polyglandular Syndrome Type 4 – Case Report
Patients with one autoimmune disease should be checked for other autoimmune disorders.
research A National Ethics Committee: Findings on Health Issues and Recommendations
Taking calcium may help elderly with osteoporosis, birth control with levonorgestrel doesn't increase heart attack risk, Salmonella can cause arthritis, a national ethics committee is recommended, and sulfasalazine might help with a hair loss condition.
research Causes and Management of Hypertrichosis
research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH
A genetic mutation in the LIPH gene causes hair loss and growth defects.
research Germline Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Pseudoxanthoma Elasticum: Progress in Research Toward Treatment - Summary of the 2012 PXE International Research Meeting
Significant progress was made in understanding PXE, but effective treatments are still needed.
research Rapp-Hodgkin Syndrome: A Review of Hair and Hair Color Aspects
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research An Epistatic Effect of KRT25 on SP6 Is Involved in Curly Coat in Horses
The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.
research A Novel Mutation in ST14 at a Functionally Significant Amino Acid Residue Expands the Spectrum of Ichthyosis-Hypotrichosis Syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Whole Genome Sequencing Analysis of Alpaca Suggests TRPV3 as a Candidate Gene for the Suri Phenotype
The TRPV3 gene variant may cause the long-haired suri alpaca coat.
research Hypotrichosis in a Child with Olmsted Syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research Genome-Wide Association Study and Transcriptome Differential Expression Analysis of the Feather Rate in Shouguang Chickens
Researchers found genes linked to feather growth speed in Shouguang chickens, highlighting two genes that might explain differences in feathering.
research Fetal Alpha 5-Reductase Val89Leu Mutation Is Associated With Late Miscarriage
A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
research An Infant with Worsening Rash
The rash on the infant indicated a serious underlying condition.
research Piebaldism in Tree Shrews
research Case 22
The dog had sebaceous adenitis, treated with ciclosporin, leading to some hair regrowth.
research Follicle Hormones
Follicle Stimulating Hormone is important for fertility.
research Availability of mRNA from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research Liver Transplantation for Propionic Acidemia in Children
Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
research State-Dependent Signaling by Cav1.2 Regulates Hair Follicle Stem Cell Function
Cav1.2 affects hair growth and could be a target for hair loss treatments.
research The Majority of Multipotent Epidermal Stem Cells Do Not Protect Their Genome by Asymmetrical Chromosome Segregation
Most hair follicle stem cells do not protect their DNA by dividing it unevenly.
research How to Speak Postmodern: Medicine, Illness, and Cultural Change
The document suggests medicine should integrate biological and cultural factors and focus on holistic, equitable care.
research Case 4-2012
Early diagnosis and treatment of TPP can prevent complications.
research Contemporary Medical Therapy for Polycystic Ovary Syndrome
New treatments for PCOS focus on insulin resistance and reducing testosterone levels, along with traditional hormone therapies.
research Study of Human Leukocyte Antigen in 13 Cases of Familial Frontal Fibrosing Alopecia: CYP21A2 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 Cutaneous Malignant Melanoma Incidences Analyzed Worldwide by Skin Type Over Advancing Age of Males and Females: Evidence Estrogen and Androgenic Hair Are Risk Factors
Estrogen and androgenic hair increase melanoma risk, especially in European-ancestry individuals.
research The Incidental Pore: CaV1.2 and Stem Cell Activation in Quiescent Hair Follicles
CaV1.2 helps activate hair follicle stem cells without calcium flux.