research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
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30-60 / 1000+ results research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma
Somatic BHD mutations are rare in Japanese renal tumors.
research Ginsenoside Rb1 retards aging process by regulating cell cycle, apoptotic pathway and metabolism of aging mice
Ginsenoside Rb1 slows down aging in mice by affecting cell growth, cell death, and metabolism.
research The clock gene brain and muscle Arnt-like protein-1 (BMAL1) is involved in hair growth
A gene called BMAL1 plays a role in controlling hair growth.
research Carbobenzoxy-capped Phe-Lys(BODIPY TMR-X-acyloxymethyl ketone(QSY7)
Near-infrared probes can safely and effectively image cysteine protease activity for disease diagnosis.
research The abnormal, mis-localizated HR bmh protein associates with members of the protein processing machinery in the cytoplasm
The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research RAPID ALKALINIZATION FACTOR 22 is a key modulator of the root hair growth responses to fungal ethylene emissions in Arabidopsis
RALF22 is essential for root hair growth in response to fungal emissions in Arabidopsis.
research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research Accurate quantification of minimal residual disease at day 15, by real-time quantitative polymerase chain reaction identifies also patients with B-precursor acute lymphoblastic leukemia at high risk for relapse
Measuring minimal residual disease on day 15 helps identify high-risk leukemia patients.
research A pair of transmembrane receptors essential for the retention and pigmentation of hair
Bmpr2 and Acvr2a receptors are crucial for hair retention and color.
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 An mTurq2-Col4a1 mouse model allows for live visualization of mammalian basement membrane development
The mTurq2-Col4a1 mouse model shows how the basement membrane develops in live mammals.
research Efficacy and safety of a novel anti‐HER2 therapeutic antibody RC48 in patients with HER2‐overexpressing, locally advanced or metastatic gastric or gastroesophageal junction cancer: a single‐arm phase II study
RC48 shows promise for treating certain advanced cancers, but more research is needed.
research POLYCOMB REPRESSIVE COMPLEX 1 IS REQUIRED TO MAINTAIN STEM CELL IDENTITY AND TO PRESERVE ADULT TISSUE HOMEOSTASIS.
Polycomb Repressive Complex 1 is crucial for keeping stem cells stable and maintaining healthy adult tissues.
research GBP1 as a machine learning-prioritized biomarker and therapeutic target for epstein-barr virus-induced clear cell renal cell carcinoma: multi-omics causal validation
GBP1 is a key target for treating Epstein-Barr virus-related kidney cancer, and finasteride may help.
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 A Meeting of Two Chronobiological Systems: Circadian Proteins Period1 and BMAL1 Modulate the Human Hair Cycle Clock
BMAL1 and Period1 genes can influence human hair growth.
research The Role of ATP-dependent Chromatin Remodeling in the Control of Epidermal Differentiation and Skin Stem Cell Activity
ATP-dependent chromatin remodeling is crucial for skin development and stem cell function.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research BAF200 Is Required for Heart Morphogenesis and Coronary Artery Development
BAF200 is essential for proper heart and coronary artery formation.
research A new tool for conditional gene manipulation in a subset of keratin‐expressing epithelia
The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
research Cell wall-associated ROOT HAIR SPECIFIC 10, a proline-rich receptor-like kinase, is a negative modulator of Arabidopsis root hair growth
ROOT HAIR SPECIFIC 10 (RHS10) reduces the length of root hairs in Arabidopsis plants.
research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA
A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
research The Development of BL 7660 as an Anti‐Acne Agent
BRL 7660, once studied for male contraception, showed promise as an acne treatment but was not developed further due to competing drugs.
research NAC transcription factor RD26 is a regulator of root hair morphogenic plasticity
RD26 controls root hair growth during drought by repressing key genes, helping plants save energy.
![The Synthesis of (−)-4-Methyl-8-Chloro-Trans-1,2,3,4,4a,5,6,10b-Octahydrobenzo-[f]-Quinolin-3-One-[3-14C] (LY300502-14C) via a Circuitous Route](/images/research/73bab8dc-bdf0-45e3-8ef7-73d0d4b93cb1/small/21074.jpg)
research The synthesis of (−)-4-methyl-8-chloro-trans-1,2,3,4,4a,5,6,10b-octahydrobenzo-[f]-quinolin-3-one-[3-14C] (LY300502-14C]) via a circuitous route
Scientists made a carbon-14 labeled version of a drug with a 48% yield and over 99% purity.