research PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
Search
for
Sort by
Research
30-60 / 1000+ results 
research Molecular pathology of skin adnexal tumours
New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
research Dermatologic manifestations of endocrine disorders
Skin problems can be signs of hormone-related disorders and recognizing them early is important for treatment.
research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Motoneuron-Specific PTEN Deletion in Mice Induces Neuronal Hypertrophy and Also Regeneration after Facial Nerve Injury
Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Differential plasma proteome analysis reveals key proteins associated with insulin resistance in acne vulgaris patients
C4BPA protein may link acne severity and insulin resistance.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Posters Presented at the 19th Joint Meeting of the International Society of Dermatopathology, March 2–3, 2016, Hilton Crystal City at Washington Reagan National Airport, Arlington, Virginia, USA
The meeting showcased rare skin disease cases, highlighting the need for accurate diagnosis and treatment.
research Mucocutaneous Manifestations of Endocrine Disorders
Skin symptoms can indicate endocrine disorders and have various treatments.
research A case report and brief literature review of Klippel-Trénaunay syndrome
The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.
research Abstracts from the 2009 Annual Meeting of the Society for Pediatric Dermatology
UVB is good for a skin condition in Asian kids, a lotion works for head lice, a drug helps with a skin blistering disorder, a foam reduces itchiness in skin inflammation, birthmarks can be more widespread, and criteria for a neurocutaneous disorder were agreed upon.
research Plastic Surgical Considerations in Pediatric Dermatologic Abnormalities
Treat pediatric skin issues with accurate diagnosis, multidisciplinary team, and various treatment options.
research Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
research Deletion of the Developmentally Essential Gene ATR in Adult Mice Leads to Age-Related Phenotypes and Stem Cell Loss
Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
research Overweight and Obesity in Children and Adolescents
Childhood obesity is rising globally due to various factors, and early prevention and healthy lifestyle changes are crucial.
research Microtechnology-based methods for organoid models
Microtechnology methods improve organoid production for medical research.
research Polysaccharides from Traditional Chinese Medicines: Extraction, Purification, Modification, and Biological Activity
Substances from Chinese medicines show promise for immune support and disease prevention, but the way they are processed affects their effectiveness.
research Comparison of viral RNA–host protein interactomes across pathogenic RNA viruses informs rapid antiviral drug discovery for SARS-CoV-2
Cepharanthine and Trifluoperazine are effective against SARS-CoV-2.
research Physiologic functions of PP2A: Lessons from genetically modified mice
Mice studies show that Protein Phosphatase 2A is crucial for cell growth, development, and disease prevention.
research Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria
Pegvaliase is recommended for treating adults with phenylketonuria.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Stem cells in tissues, organoids, and cancers
Stem cells are crucial for tissue growth, cancer treatment, and disease modeling, but challenges remain in clinical use.
research Pulmonary Edema in COVID-19 Patients: Mechanisms and Treatment Potential
Targeting abnormal lung fluid metabolism could reduce COVID-19 deaths and ventilator use.
research Fadrozole and finasteride exposures modulate sex steroid- and thyroid hormone-related gene expression in Silurana (Xenopus) tropicalis early larval development
Fadrozole and finasteride change gene expression related to sex hormones and thyroid hormones in frog larvae development.
research Normal Hair Growth in Children
Children's hair grows in different types from before birth through puberty, with growth rates and characteristics varying by age, sex, and race.
research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research High proliferation and delamination during skin epidermal stratification
High proliferation and cell delamination drive early skin development, while later stages may not rely on cell division orientation.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.