research Impaired turnover of autophagolysosomes in cathepsin L deficiency
Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
Search
for
Sort by
Research
750-780 / 1000+ results
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research The TFIID subunit TAF4 regulates keratinocyte proliferation and has cell-autonomous and non-cell-autonomous tumour suppressor activity in mouse epidermis
TAF4 is important for skin cell growth and helps prevent skin cancer in mice.
research Smad7-Induced β-Catenin Degradation Alters Epidermal Appendage Development
Too much Smad7 changes skin and hair development by breaking down a protein called β-catenin, leading to more oil glands and fewer hair follicles.
research Histone H3 K4/9/27 Trimethylation Levels Affect Wound Healing and Stem Cell Dynamics in Adult Skin
Proper tissue repair in adult skin requires specific histone hypomethylation.
research Adenomatous Polyposis Coli (APC) Is Required for Normal Development of Skin and Thymus
The Apc gene is crucial for normal skin and thymus development.
research Keratin 17 modulates hair follicle cycling in a TNFα-dependent fashion
Keratin 17 is crucial for normal hair growth by regulating hair cycle transitions with TNFα.
research Review of Keratin Disorders
Mutations in keratin genes cause skin, hair, and nail disorders, with future treatments possible.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research A kindred with mutant IKAROS and autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATPChannel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research Absence of vitamin D receptor (VDR)‐mediated PPARγ suppression causes alopecia in VDR‐null mice
Lack of vitamin D receptor causes hair loss in mice by allowing certain genes to overactivate.
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 Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Inducible cre-mediated N-ras activation and PTEN inactivation in transgenic mouse melanocytes requires keratinocyte hyperplasia to elicit a melanocyte pathology
Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.
research Role of foxn1 in Xenopus laevis thymopoiesis.
FOXN1 is crucial for thymus development and immune response in Xenopus laevis.
research FOXN1 Is Critical for Onycholemmal Terminal Differentiation in Nude (Foxn1nu) Mice
The Foxn1 gene is essential for normal nail and hair development.
research Functional Characterization offer-ts, a Temperature-Sensitive FERONIA Mutant Allele That Alters Root Hair Growth
The fer-ts mutation in plants prevents root hair growth at high temperatures.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
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.
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 Genetic ablation of myelin protein zero-like 3 in mice increases energy expenditure, improves glycemic control, and reduces hepatic lipid synthesis
Removing myelin protein zero-like 3 in mice leads to better metabolism and resistance to obesity.
research Inducible deletion of Dicer or Drosha reveals multiple functions for miRNAs in postnatal epidermis and hair follicles
miRNAs are crucial for hair growth and skin health.
research Hox demarcates regional regeneration of adult hair follicle stem cells
Hox genes control hair follicle stem cell regeneration in different body regions.
research Reversing wrinkled skin and hair loss in mice by restoring mitochondrial function
Restoring mitochondrial function in mice reversed their skin wrinkling and hair loss.
research Intermolecular NH 2 -/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity
Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
research A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and is Associated with Androgenic Alopecia
A specific gene change in APCDD1 increases the risk of hair loss.
research Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction
Deleting the CDSN gene causes severe skin and hair problems, leading to death.