research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
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180-210 / 1000+ resultsresearch Studies of E2s Related to Unconventional Ubiquitination in Arabidopsis thaliana
UBC13 and UBC22 enzymes are important for plant growth and development in Arabidopsis thaliana.
research Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene
Introducing the rat OTC gene partially corrected OTC deficiency in mice.
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 Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
research Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
New genetic mutations causing hair loss were found in a Chinese family.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research AP-2α/AP-2β transcription factors are key regulators of epidermal homeostasis
AP-2α and AP-2β proteins are essential for healthy adult skin and hair.
research Spatial and Temporal Coordination of Force-generating Actin-based Modules Drives Membrane RemodelingIn Vivo
Actin filaments help stabilize and integrate cell membranes during transfer.
research Testosterone up-regulates vacuolar ATPase expression and functional activities in vas deferens of orchidectomized rats
Testosterone increases acidification in the vas deferens by up-regulating V-ATPase.
research Influence of Myosin Regulatory Light Chain and Myosin Light Chain Kinase on the Physiological Function of Inner Ear Hair Cells
NM2 and RLC phosphorylation are essential for normal inner ear hair cell function.
research Detection of a Second KAP22 Family Member in Sheep and Analysis of Its Genetic Variation and Associations with Selected Wool Fibre Traits
The KRTAP22-2 gene in sheep does not significantly affect wool traits.
research 217 The adenosine-generating ecto-enzyme CD73 regulates human hair growth
The enzyme CD73 helps control human hair growth and could be targeted to treat hair growth disorders.
research DNMT1 targets SRD5A2 to induce mitochondrial homeostasis and EMT in urothelial cells of hypospadias
DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
research 5α-Reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia
A49T gene variant linked to higher prostate cancer risk, lower hormone levels, and slightly reduced balding risk.
research Fidelity of the Human Mitochondrial DNA Polymerase
Human mitochondrial DNA polymerase makes very few errors, crucial for preventing degenerative diseases.
research DGAT1 Modulates Hair Cycling and Is Essential for Retinoid Homeostasis in the Skin
The enzyme Dgat1 is essential for healthy hair and skin by controlling retinoid levels.
research Identification and Characterization of a Novel Lysophosphatidic Acid Receptor, p2y5/LPA6
p2y5, now called LPA6, is a receptor important for human hair growth.
research Spiking dependence of SARS‐CoV‐2 pathogenicity on TMPRSS2
TMPRSS2 affects COVID-19 severity and treatment options.
research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research Disease causing homozygous variants in the human hairless gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
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 Human hair keratin-associated proteins: Sequence regularities and structural implications
Keratin-associated proteins help link filaments and affect keratin's strength.
research 486 Molecular Mechanisms of Type II Spiral Ganglion Neuron Development
research Kinetic Studies with Transglutaminases
Transglutaminases work through a ping-pong mechanism, and human plasma and platelet transglutaminases have similar catalytic subunits.
research Matriptase/MT-SP1 is required for postnatal survival, epidermal barrier function, hair follicle development, and thymic homeostasis
research Abstract 2469: Increased cathepsin B expression in cultured tuberous sclerosis skin tumor cells and patient tumor tissues
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
research Genetic analysis of 5 α reductase type 2 enzyme in relation to oxidative stress in cases of androgenetic alopecia in a sample of egyptian population
5α reductase type 2 enzyme mutation and oxidative stress may increase androgenetic alopecia risk in Egyptians.
research Structures of Get3d reveal a distinct architecture associated with the emergence of photosynthesis
Get3d protein helps maintain photosynthesis in plants and photosynthetic bacteria.
research 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.