research Transglutaminase-3 Enzyme: A Putative Actor in Human Hair Shaft Scaffolding?
TGase 3 helps build hair structure by forming strong bonds between proteins.
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330-360 / 1000+ resultsresearch Biotinidase deficiency – clinching the diagnosis rapidly can make all the difference!
Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
research NUDT15 polymorphism explains serious toxicity to azathioprine in Indian patients with chronic immune thrombocytopenia and autoimmune hemolytic anemia: a case series
The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
research Isolated Amylase Deficiency as a Cause of Failure to Thrive
Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research 69-Year-Old Man With Nasal Congestion and Pre-Syncope
A 69-year-old man with sinus infection and fainting spells was diagnosed with a rare kidney disease, treated with steroids and a specific drug, which improved his condition.
research Citrullinome of Porphyromonas gingivalis Outer Membrane Vesicles: Confident Identification of Citrullinated Peptides
Citrullinated proteins from Porphyromonas gingivalis may contribute to rheumatoid arthritis.
research 1329 Transglutaminase 2 deficiency leads to lipid accumulation and reduced autophagy in SZ95 sebocytes
Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
research 547 CDK9 Kinase Activation in Association with AFF1-SEC Initiate Epidermal Progenitor differentiation
NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Progressive expression of PPARGC1α is associated with hair miniaturization in androgenetic alopecia
Increased PPARGC1α relates to hair thinning in common baldness.
research LncRNA NEAT1 and miRNA 101 as potential diagnostic biomarkers in patients with alopecia areata
research Artemisia argyi Ameliorates Nonalcoholic Steatohepatitis by Modulating Fibrosis-Related Factors and Gut Microbiota
KeraGLO improves skin and hair health.
research Myodegeneration in EDA-A2 Transgenic Mice Is Prevented by XEDAR Deficiency
XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
research Activated Polyamine Catabolism Depletes Acetyl-CoA Pools and Suppresses Prostate Tumor Growth in TRAMP Mice
Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
research The circular RNA circNlgnmediates doxorubicin-inducedcardiac remodeling and fibrosis
A specific RNA, circNlgn, contributes to heart damage and scarring caused by the cancer drug doxorubicin.
research Differential expression of steroid 5α-reductase isozymes and association with disease severity and angiogenic genes predict their biological role in prostate cancer
SRD5A1 is crucial in advanced prostate cancer, and blocking both SRD5A1 and SRD5A2 is more effective than targeting SRD5A2 alone.
research The expression of the gene asebia in the laboratory mouse: 3. Sebaceous glands
Mice with the ab gene have abnormal sebaceous gland development, affecting sebum production.
research Ocular aspects in biotinidase deficiency Clinical and genetic original studies
Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
research Malt1 Protease Is Critical in Maintaining Function of Regulatory T Cells and May Be a Therapeutic Target for Antitumor Immunity
Malt1 protease is essential for regulatory T cell function and could be targeted to boost antitumor immunity.
research Association between SQSTM1 dysregulation and risk in alopecia areata: a Mendelian randomization study
SQSTM1 gene issues may increase the risk of alopecia areata.
research Diverse origins of fibrinolytic enzymes: A comprehensive review
Exploring fermented foods from various regions can lead to discovering new fibrinolytic enzymes.
research Kinetic Studies with Transglutaminases
Transglutaminases work through a ping-pong mechanism, and human plasma and platelet transglutaminases have similar catalytic subunits.
research The Arabidopsis Receptor-like Kinase CAP1 Promotes Shoot Growth under Ammonium Stress
CAP1 helps Arabidopsis plants grow better under ammonium stress.
research Inhibition of 17α-hydroxylase/C17,20 lyase reduces gating deficits consequent to dopaminergic activation
Blocking CYP17A1 enzyme may help improve certain brain function issues related to dopamine.
research Double-stranded RNA induces inflammation via the NF-κB pathway and inflammasome activation in the outer root sheath cells of hair follicles
Double-stranded RNA causes inflammation in hair follicle cells, which may help understand and treat alopecia areata.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research The TNFRSF1B Connection: Implications for Androgenetic Alopecia Pathogenesis and Treatment
Targeting the TNFRSF1B gene may help treat hair loss.
research RNase L represses hair follicle regeneration through altered innate immune signaling
RNase L hinders hair follicle regeneration by altering immune signals.
research Uncovering novel biomarkers and drug targets for androgenetic alopecia via metabolite regulation and multi-tissue validation
SOD1 and KL are promising targets for new hair loss treatments.