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780-810 / 1000+ resultsresearch Kinetic Studies with Transglutaminases
Transglutaminases work through a ping-pong mechanism, and human plasma and platelet transglutaminases have similar catalytic subunits.
research When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
A genetic variant in the KRT25 gene causes tightly curled hair.
research Association of a polymorphism in the ornithine decarboxylase gene with male androgenetic alopecia
research Diffuse congenital hypotrichosis simplex with associated hair shaft fragility
The document's conclusion cannot be provided because the document is not available or cannot be understood.
research Androgen receptor genetic variant predicts COVID‐19 disease severity: a prospective longitudinal study of hospitalized COVID‐19 male patients
A certain genetic variant in the androgen receptor may predict the severity of COVID-19 in men.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research Pathogenesis of pili annulati
Pili annulati is caused by a protein metabolism disorder affecting hair structure.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research 1446 RNase L acts as a regeneration suppressor
RNase L suppresses regeneration in mammals.
research Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
Progerin affects cell shape but not hair or skin in mice.
research 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
research HSD3B1 Genotypes Conferring Adrenal-Restrictive and Adrenal-Permissive Phenotypes in Prostate Cancer and Beyond
Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.
research Ciencia, tecnología y sociedad, materia optativa de bachillerato
Cholesterol issues in skin and hair may cause permanent hair loss by triggering inflammation.
research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Rand Protease: The Role of Calcium-Binding Site on Stability with Mutagenesis and The Effectiveness on Leather Dehairing
The enzyme Rand protease works well for leather dehairing and its stability is important, with Leu75 playing a key role.
research Proton Affinitive Derivatization for Highly Sensitive Determination of Testosterone and Dihydrotestosterone in Saliva Samples by LC-ESI-MS/MS
Using 5-butylpicolinate esters improves the sensitivity and reliability of detecting testosterone and dihydrotestosterone in saliva.
research Tryptophan Missense Mutation in the Ligand‐Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25‐Dihydroxyvitamin D
A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
research Cloning and Expression of Cellular Retinoic Acid Binding Protein I Gene in Inner Mongolian Cashmere Goats
The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.
research Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
Reduced matriptase activity causes skin and hair issues in both humans and mice.
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 Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research Intermediate filaments: regulation of gene expression and assembly
Intermediate filaments are crucial for cell structure and function, regulated by specific genes and proteins.
research Building a Better Scar: Re-engineering Extracellular Matrix Structure in Dermal Scars
αCT1 improves scar appearance by changing early collagen structure.
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia
High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
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.