research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
Search
for
Sort by
Research
30 / 902 results
research The Role of Astrotactin2 in Regulating Mammalian Skin Polarity
Astrotactin2 affects hair follicle orientation and skin cell polarity.
research Distinct Developmental Functions of Prostasin (CAP1/PRSS8) Zymogen and Activated Prostasin
Prostasin has two roles in skin: one for normal skin development without needing activation, and another for proper hair growth that requires activation.
research Hair Follicular Expression and Function of Group X Secreted Phospholipase A2 in Mouse Skin
sPLA2-X is crucial for normal hair growth and follicle health.
research Epithelial Integrity Is Maintained by a Matriptase-Dependent Proteolytic Pathway
Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
research Cleave But Not Leave: Astrotactin Proteins in Development and Disease
Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
research The Notch Intracellular Domain Has an RBPj-Independent Role During Mouse Hair Follicular Development
The Notch signaling pathway helps in mouse hair development through a noncanonical mechanism that does not rely on RBPj or transcription.
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 Epidermal Notch Signaling: Differentiation, Cancer, and Adhesion
Notch signalling helps skin cells differentiate and prevents tumors.
research Characterization of Mouse Profilaggrin: Evidence for Nuclear Engulfment and Translocation of the Profilaggrin B-Domain During Epidermal Differentiation
Mouse profilaggrin helps in skin cell differentiation and may be involved in calcium signaling.
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 Non-Apoptotic Role for Caspase-7 in Hair Follicles and Surrounding Tissue
Caspase-7 has functions in skin and hair that are not related to cell death.
research Risk Factors, Prevalence, and Diagnosis of Hutchinson-Gilford Syndrome with Special Reference to Case Reports
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Effect of 5α-Dihydrotestosterone and Testosterone on Apoptosis in Human Dermal Papilla Cells
High levels of testosterone and 5α-DHT can lead to cell death in cells important for hair growth.
research Impaired Notch-MKP-1 Signalling in Hidradenitis Suppurativa: An Approach to Pathogenesis by Evidence from Translational Biology
Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
research Control of Hair Follicle Cell Fate by Underlying Mesenchyme Through a CSL–Wnt5a–FoxN1 Regulatory Axis
Notch/CSL signaling controls hair follicle differentiation through Wnt5a and FoxN1.
research Matriptase Activation and Shedding with HAI-1 Induced by Steroid Sex Hormones in Human Prostate Cancer Cells, but Not in Breast Cancer Cells
Steroid sex hormones activate matriptase in prostate cancer cells but not in breast cancer cells.
research The Immunological Impact of IL-1 Family Cytokines on the Epidermal Barrier
IL-1 family cytokines are crucial for skin defense and healing, but their imbalance can cause skin diseases.
research Hutchinson-Gilford Syndrome: History, Causes, Phenotype and Research Advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research Pharmacological BACE1 and BACE2 Inhibition Induces Hair Depigmentation by Inhibiting PMEL17 Processing in Mice
Blocking BACE1 and BACE2 enzymes causes hair color loss in mice.
research The Role of ADAM17 in PCOS Pathogenesis: A Review Paper
ADAM17 could be a potential target for treating PCOS.
research Urokinase Is a Positive Regulator of Epidermal Proliferation In Vivo
Urokinase, a type of protein, helps skin cells multiply faster, especially in newborn mice.
research Caspases in Life and Death: Their Role in Head Formation
Caspases are enzymes important for both cell death and various non-lethal cell functions, affecting head development and hair growth, with different caspases playing specific roles.
research Case Report: Acrodermatitis Enteropathica Resulting From a Novel SLC39A4 Gene Mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research Partial Purification and Characterization of Two Distinct Types of Caspases from Human Epidermis
Two distinct caspases in human skin help with cell death and skin formation.
research A Comprehensive Atlas of Endogenous Peptides in Maize
The atlas maps maize peptides, showing complex regulation and varied roles across tissues and stages.
research GH-IGF-I Axis in Non-Obese Women with Functional Hyperandrogenism
The GH-IGF-I axis is likely involved in the hormonal imbalances seen in non-obese women with functional hyperandrogenism.
research Hyaluronate Fragments Reverse Skin Atrophy by a CD44-Dependent Mechanism
Hyaluronate fragments can help reverse skin thinning by working with the CD44 receptor.
research Recombinant Thrombomodulin Used to Successfully Treat Cronkhite-Canada Syndrome with Disseminated Intravascular Coagulation Due to Sepsis in a Compromised Patient
Recombinant thrombomodulin can effectively treat severe complications in Cronkhite-Canada syndrome.
research Targeting Host Cell Proteases as a Potential Treatment Strategy to Limit the Spread of SARS-CoV-2 in the Respiratory Tract
Blocking enzymes that help the virus enter cells could be a promising way to treat COVID-19.