research Two Novel MBTPS2 Missense Mutations Impairing S2P Proteolytic Activity Lead to IFAP Syndrome With New Phenotypic Anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
Search
for
Sort by
Research
30 / 1000+ results 
research Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Skin-Specific Regulation of SREBP Processing and Lipid Biosynthesis by Glycerol Kinase 5
A gene called Gk5 controls lipid production in the skin and affects hair growth.
research Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
research A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research A Rare Case of Keratosis Follicularis Spinulosa Decalvans Affecting a Female Child
A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research A Japanese Case of Ichthyosis Follicularis with Atrichia and Photophobia Syndrome with an MBTPS2 Mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research To Grow or Not to Grow: Hair Morphogenesis and Human Genetic Hair Disorders
Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research Cholesterol Homeostasis: Links to Hair Follicle Biology and Hair Disorders
Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.
research Transforming Growth Factor-Beta in Stem Cells and Tissue Homeostasis
TGF-β is crucial for tissue repair and can cause diseases if not properly regulated.
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 Pleiotropic Role of Notch Signaling in Human Skin Diseases
Notch signaling disruptions can cause various skin diseases.
research The Antiandrogen Enzalutamide Downregulates TMPRSS2 and Reduces Cellular Entry of SARS-CoV-2 in Human Lung Cells
The drug enzalutamide may reduce the ability of the virus causing COVID-19 to enter lung cells.
research From Bedside to Bench: Regulation of Host Factors in SARS-CoV-2 Infection
The conclusion is that certain genetic factors and blood types may affect COVID-19 severity, but changes in ACE2 and TMPRSS2 genes are not clearly linked to it.
research Ppp2r2a Knockout Mice Reveal That Protein Phosphatase 2A Regulatory Subunit, PP2A-B55α, Is an Essential Regulator of Neuronal and Epidermal Embryonic Development
The PP2A-B55α protein is essential for brain and skin development in embryos.
research Sex Hormones in SARS-CoV-2 Susceptibility: Key Players or Confounders?
Sex hormones' effects on COVID-19 are unclear and more research is needed to understand their potential as treatment.
research Heterogeneity of Neural Crest-Derived Melanocytes
Melanocytes are diverse cells important for pigmentation and skin health, influenced by genetics and environment.
research Stress-Induced c-Jun-Dependent Vitamin D Receptor Activation Dissects the Non-Classical VDR Pathway from the Classical VDR Activity
Stress activates a special function of the Vitamin D receptor with the help of c-Jun, which can also prevent cell death.
research The G-Protein Coupled Receptor Kinase 2 (GRK2) Orchestrates Hair Follicle Homeostasis
GRK2 is essential for healthy hair follicle function, and its absence can lead to hair loss and cysts.
research Expression of Signaling Components in Embryonic Eyelid Epithelium
Eyelid cells share signaling components but differ in pathway activity.
research Oxygen, Metabolism, and Regeneration: Lessons from Mice
Mice with enhanced regeneration abilities may help develop new regenerative medicine therapies.
research What Does the Concept of the Stem Cell Niche Really Mean Today?
Stem cell niches support, regulate, and coordinate stem cell functions.
research Skipping of Exons by Premature Termination of Transcription and Alternative Splicing Within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant
A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Desmoglein 4 Is Regulated by Transcription Factors Implicated in Hair Shaft Differentiation
Desmoglein 4 is controlled by specific proteins that affect hair growth.
research Structure and Development of the Skin and Cutaneous Appendages
Understanding skin structure and development helps diagnose and treat skin disorders.
research Are Nutraceuticals Effective in Covid-19 and Post-Covid Prevention and Treatment?
Some nutraceuticals may help in COVID-19 prevention and treatment, but more research is needed.