research Hoffman syndrome with the classic sign of myoedema and an unusual finding of systolic heart failure
Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
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510-540 / 1000+ resultsresearch Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research An endocrinopathy characterized by dysfunction of the pituitary-adrenal axis and alopecia universalis: supporting the entity of a triple H syndrome
Triple H syndrome exists and can vary in symptoms.
research Reactivation of autoimmune hepatitis during budesonide monotherapy, and response to standard treatment
Budesonide alone is less effective than standard treatment for autoimmune hepatitis.
research Reverse Protein Engineering Of Firefly Luciferase
The protein's size was reduced, but more work is needed to confirm its function.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research A functional study of a case of glucagonoma exhibiting typical glucagonoma syndrome
A pancreatic tumor caused high glucagon levels and symptoms, but treatment reduced glucagon and shrank liver tumors.
research Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice
Methionine restriction works better than betaine for treating CBS deficiency symptoms in mice.
research Decision letter: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 helps retinal cells respond to signals for eye development.
research Treatment of Lipodystrophy with Troglitazone
Troglitazone increases subcutaneous fat in lipodystrophy patients.
research MOF-mediated Histone H4 Lysine 16 Acetylation Governs Mitochondrial and Ciliary Functions By Controlling Gene Promoters
MOF controls skin development by regulating genes for mitochondria and cilia.
research BG01 Confirming small nuclear ribonucleoprotein polypeptide E as a cause of nonsyndromic hypotrichosis
The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
research The function of BST2 in γδ T Cells, CD8 T Cells, and macrophages in alopecia areata pathogenesis 4231
BST2 is highly expressed in certain immune cells in alopecia areata, suggesting a role in the disease.
research Excessive hair growth around local β‐interferon injection sites for malignant melanoma
β-interferon injections for melanoma can cause excessive hair growth at the injection sites.
research Epidermal and hair follicle transglutaminases and crosslinking in skin
research 572 Olfactory Receptor 2A4/7 Activation by the Fragrance, Cyclohexyl Salicylate, Promotes Human Hair Follicle Growth and Stem Cell Progeny Expansion
The fragrance cyclohexyl salicylate helps promote hair growth and increase hair stem cell numbers.
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 disulfide bond formation in the structural transition observed in the intermediate filaments of developing hair
Disulfide bonds are crucial for hair structure during keratinization.
research 742 Augmentation of HGF signaling: Potential for enhancing hair follicle neogenesis and development in bioengineered skin
Boosting HGF signaling could improve the creation of hair follicles in lab-made skin.
research Metabolic Engineering of Microorganisms to Produce L-Aspartate and Its Derivatives
Scientists can use engineered microbes to make L-aspartate and related chemicals, but there's still room to improve their efficiency.
research Cysteine contents of purified human hair low-sulfur protein components
research The inconsistent regulation of HOXC13 on different keratins and the regulation mechanism on HOXC13 in cashmere goat (Capra hircus)
The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
research 2‐Deoxy‐d ‐glucose enhances tonic inhibition through the neurosteroid‐mediated activation of extrasynaptic GABA A receptors
2-DG reduces seizures by enhancing brain inhibition through specific receptor activation.
research Carbon-13 n.m.r. studies of keratin intermediate filament of human hair
Human hair keratin has a 40% α-helix structure that changes to a random coil in 8 M urea.
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research Ginkgolide B and bilobalide promote the growth and increase β‐catenin expression in hair follicle dermal papilla cells of American minks
Ginkgolide B and bilobalide help mink hair grow by making skin cells healthier and boosting a key growth protein.
research Structural Requirements of Minoxidil Analogs for Enhancing Lysyl Hydroxylase Inhibitory Activity
Minoxidil analogs can be improved for hair growth inhibition by modifying specific parts of their structure.
research Modulating mechanosensory afferent excitability by an atypical mG luR
A compound named ZCZ90 can increase muscle spindle firing, potentially helping treat muscle spasms and hypertension.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Heparin-based sericin hydrogel–encapsulated basic fibroblast growth factor for in vitro and in vivo skin repair
The hydrogel significantly speeds up wound healing and supports skin cell growth.