research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
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750-780 / 1000+ resultsresearch Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies
Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
research Recent Advances in Genome-Editing Technology with CRISPR/Cas9 Variants and Stimuli-Responsive Targeting Approaches within Tumor Cells: A Future Perspective of Cancer Management
New CRISPR/Cas9 variants and nanotechnology-based delivery methods are improving cancer treatment, but choosing the best variant and overcoming certain limitations remain challenges.
research Modeling animal genomics in mice: An authentic approach for the functional interrogation of evolutionarily and agriculturally critical variants
Mouse models are essential for studying and improving genetic traits in agriculture.
research Peptide-Based PROTACs: Transitioning from Static Paradigm to a Dynamic Landscape within Targeted Protein Degradation
Peptide-based PROTACs show promise in targeting hard-to-treat proteins, especially for cancer therapy.
research Peptide-Based Approaches for Pain Relief and Healing in Wounds
Topical peptides may offer safer, effective pain relief and healing for wounds.
research Sequencing KRT71 as a candidate gene for hair shape variation in dromedary camels
KRT71 gene variants may influence camel hair shape but don't fully explain it.
research Recent Updates of the CRISPR/Cas9 Genome Editing System: Novel Approaches to Regulate Its Spatiotemporal Control by Genetic and Physicochemical Strategies
CRISPR/Cas9 has improved precision and control but still faces clinical challenges.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Genetics and Epigenetics of Polycystic Ovary Syndrome
Genes and epigenetic changes are important in the development of Polycystic Ovary Syndrome.
research BUZZ : an essential gene for postinitiation root hair growth and a mediator of root architecture in Brachypodium distachyon
The BUZZ gene is important for root hair growth and overall root structure in the plant Brachypodium distachyon.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research A narrative review of SARS-CoV-2 variants and long COVID
Long COVID is a big health problem needing more research and better treatments.
research Polymorphism of Keratin Gene KRT71 and Its Relationship with Wool Properties in Gansu Alpine Fine-Wool Sheep
The GG genotype of the KRT71 gene leads to longer wool in Gansu alpine fine-wool sheep.
research Investigating the role of keratin proteins and microbial associations in hereditary and pathogenic alopecia
research Characterization of Rickets Type II Model Rats to Reveal Functions of Vitamin D and Vitamin D Receptor
The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.
research Discovery of Four New FGF5 Variants Causing Long Hair in the Dog
Four new FGF5 gene variants cause long hair in dogs.
research The JAK/STAT signaling pathway: from bench to clinic
The JAK/STAT pathway is important in cell processes and disease, and JAK inhibitors are promising for treating related conditions.
research A Novel Marker of Tissue Junctions, Collagen XXII
Collagen XXII is a marker for tissue junctions, aiding in structural integrity and found in muscles, heart, skin, and arthritic joints.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research FGF5 is a crucial regulator of hair length in humans
FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
research Proteome Analysis of Human Hair Shaft
Human hair contains many proteins, with some being highly abundant and modified.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Molecular evolution of the keratin associated protein gene family in mammals, role in the evolution of mammalian hair
KRTAP genes evolved early in mammals, leading to diverse hair traits.
research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research Arabidopsis ZINC FINGER PROTEIN1 Acts Downstream of GL2 to Repress Root Hair Initiation and Elongation by Directly Suppressing bHLH Genes
AtZP1 protein stops root hair growth in plants by blocking certain genes.
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 Fidelity of the Human Mitochondrial DNA Polymerase
Human mitochondrial DNA polymerase makes very few errors, crucial for preventing degenerative diseases.
research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
A mutation in the KRT74 gene causes tightly curled hair.