research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
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210-240 / 1000+ results research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research Acrodermatitis Enteropathica‐like Eruption in an Infant with Nonketotic Hyperglycinemia
A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
research Expression, characterization, and structural analysis of human liver delta4-3-ketosteroid 5beta-reductase (AKR1D1) and its disease-related mutant P133R
The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
research Matriptase-2, A Novel Suppressor of Hepcidin.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
research Widespread erythematous scaly eruption in an infant with phenylketonuria
Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
research Recalcitrant lichen planopilaris treated with upadacitinib: a case series
Upadacitinib may effectively treat resistant lichen planopilaris.
research Trans glutaminase-mediated cross-linking in mammalian epidermis
research 1492 Prostacyclin pathway to enhance wound healing in diabetic foot ulcers
Treprostinil, a drug, can delay wound healing in healthy cells but doesn't affect diabetic foot ulcer cells, suggesting further research could help understand its role in treating these ulcers.
research Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease
A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
research 1393 Human TMEM2 is not a hyaluronidase but a regulator of hyaluronan metabolism
Human TMEM2 does not break down hyaluronan but helps control its metabolism.
research Kinetic Studies with Transglutaminases
Transglutaminases work through a ping-pong mechanism, and human plasma and platelet transglutaminases have similar catalytic subunits.
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 N-terminal functional domain of Gasdermin A3 regulates mitochondrial homeostasis via mitochondrial targeting
Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
research APECED: JAK Inhibition in an Adult Case with Long-Term Follow-up
JAK inhibitors may help improve symptoms in adults with APECED.
research Ανάπτυξη καινοτόμων πεπτιδικών φορέων με ιδιότητες αυτοσυναρμογής για τοπική χορήγηση φαρμάκων
Self-assembling peptide hydrogels effectively deliver drugs locally, enhancing treatment and reducing side effects.
![Synthesis and In Vitro Study of 17β-[N-Ureylene-N,N′-Disubstituted]-4-Methyl-4-Aza-5α-Androstan-3-Ones as Selective Inhibitors of Type I 5α-Reductase](/images/research/d19df8a7-8de6-4430-8a0d-4ffa1f502985/small/15608.jpg)
research Synthesis and in vitro study of 17β-[N-ureylene-N,N′-disubstituted]-4-methyl-4-aza-5α-androstan-3-ones as selective inhibitors of type I 5α-reductase
New compounds were made that effectively block a specific enzyme related to androgen conditions.
research Structural & functional studies of L-PGDS and SMPDL3A enzymes in lipid signaling family
L-PGDS has specific binding sites for its functions and could help in drug delivery system design.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research The effects of phosphodiesterase 3 (PDE3) inhibitor on hair follicle cell viability and hair growth
PDE3 inhibitor may help treat hair loss by promoting hair growth.
research Alopecia in laboratory animals induced by a polyampholyte, polyethylene alanine
Polyethylene alanine caused hair loss in young lab animals but not in adults, with hair regrowth occurring within 20 days.
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 Vitamin D activates type A natriuretic peptide receptor gene transcription in inner medullary collecting duct cells
Vitamin D boosts a specific gene activity in kidney cells that could improve heart and kidney function.
research A phosphoinositide-mediated switch of GET pathway receptor dimerization in Arabidopsis
Phospholipids help plant proteins move by regulating receptor interactions.
research Transglutaminase-3, an esophageal cancer-related gene
Transglutaminase-3 is often reduced in esophageal cancer.
research Cutaneous Lesions in the Rat Following Administration of an Irreversible Inhibitor of erbB Receptors, Including the Epidermal Growth Factor Receptor
CI-1033 causes skin lesions in rats, similar to humans, due to EGF receptor inhibition.
research Plant elicitor Peptides regulate root hair development in Arabidopsis
Peps help Arabidopsis plants grow more root hairs by affecting specific genes and calcium signaling.
research Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria
Pegvaliase is recommended for treating adults with phenylketonuria.