research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
Search
for
Sort by
Research
90-120 / 1000+ results 
research Pten loss in Lgr5+ hair follicle stem cells promotes SCC development
Loss of Pten in certain hair follicle stem cells increases skin cancer risk.
research Limited stage small cell lung cancer
Treat limited stage small cell lung cancer with chemotherapy and radiation, and consider preventive brain radiation for better survival chances.
research The impact of radial extracorporeal shock wave therapy on the plantar flexor muscle in children with spasticity
Shock wave therapy improved muscle function and movement in children with spastic cerebral palsy.
research Keratinocyte-Specific Onset of Serine Protease BSSP Expression in Experimental Carcinogenesis
BSSP may help skin tumors grow and could be a marker or target for skin cancer treatment.
research Multifocal Malignant Proliferating Trichilemmal Tumour: A Diagnostic Imitator Beyond the Scalp
Recognizing specific markers is crucial for correctly diagnosing and treating rare multifocal MPTT in males.
research PHYTOCHEMICAL PROFILE AND PHARMACOLOGICAL ACTIVITIES WITH COSMETOLOGICAL AND EMERGING APPLICATIONS OF CLITORIA TERNATEA (SANGU POO)
Clitoria ternatea has potential health and skincare benefits but needs more testing for safe use.
research PHYTOCHEMICAL PROFILE AND PHARMACOLOGICAL ACTIVITIES WITH COSMETOLOGICAL AND EMERGING APPLICATIONS OF CLITORIA TERNATEA (SANGU POO)
Clitoria ternatea has potential health and skincare benefits but needs more testing for safe use.
research Identical p53 gene mutation in malignant proliferating trichilemmal tumour of the scalp and small cell carcinoma of the common bile duct: the necessity for therapeutic caution?
Identical p53 gene mutations in different cancers suggest the need for careful treatment.
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 PHYTOCHEMICAL PROFILE AND PHARMACOLOGICAL ACTIVITIES WITH COSMETOLOGICAL AND EMERGING APPLICATIONS OF CLITORIA TERNATEA (SANGU POO)
Clitoria ternatea has potential health and skincare benefits but needs more testing for safe use.
research PHYTOCHEMICAL PROFILE AND PHARMACOLOGICAL ACTIVITIES WITH COSMETOLOGICAL AND EMERGING APPLICATIONS OF CLITORIA TERNATEA (SANGU POO)
Clitoria ternatea has potential health and skincare benefits but needs more testing for safe use.
research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
research 751 Thymic stromal lymphopoeitin controls hair growth
Thymic stromal lymphopoietin (TSLP) promotes hair growth by stimulating specific skin cells.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research A Case of Trichothiodystrophy with a Low Sulfur Level in the Hair Shafts
research 1386 Trichodysplasia spinulosa small T antigen drives ectopic hair follicle development in adult transgenic mice
The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
research Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy
Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
research CLINICO-TRICHOSCOPIC EVALUATION OF HIRSUTISM TREATED WITH INTENSE PULSED LIGHT IN A TERTIARY CARE HOSPITAL IN EASTERN INDIA
Intense Pulsed Light is an effective and safe hair removal method for people with excessive hair growth.
research Ptch2 is a Potential Regulator of Mesenchymal Stem Cells
Ptch2 plays a key role in controlling stem cell function and the ability to regenerate after birth.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research 653 Substance P ameliorates epidermal thickness, basal cell density, and asymmetric stem cell self-renewal in skin with decreased sensory innervation
Substance P helps restore skin thickness and cell renewal when sensory nerves are reduced.
research 28665 Cutaneous T-cell lymphoma (CTCL) outcomes during COVID-19
CTCL patients can safely continue treatment during COVID-19 with proper safety measures.
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research TTNPB Promotes Human Pluripotent Stem Cell‐to‐Neural Stem Cell Transition via Modulation of Chromatin Accessibility and the S‐(5′‐adenosyl)‐L‐homocysteine/Choline Metabolic Network
TTNPB helps turn stem cells into neural stem cells, improving depression-like behaviors in rats.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Studies on basal cell carcinoma with emphasis on the role of the human homologue of the Drosophila patched gene
PTCH gene mutations contribute to basal cell carcinoma development.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.