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research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Hair keratin KRT81 is expressed in normal and breast cancer cells and contributes to their invasiveness
The hair keratin gene KRT81 is found in both normal and breast cancer cells and helps them invade surrounding tissues.
research Studies on legume root hair development : correlations with the infection process by Rhizobium bacteria
Infection thread formation in legumes is similar to root hair and pollen tube growth.
research N-methylformamide induces multiple organ toxicity in Fischer 344 rats
research DEVELOPMENTAL AND EVOLUTIONARY COMPARATIVE ANALYSIS OF A REGULATORY LANDSCAPE IN MAMMALS AND BIRDS
Hoxd gene regulation in mammals and birds is robust despite differences in DNA sequences, due to 3D chromatin structures.
research Pharmacological Activity and Clinical Use of PDRN
PDRN helps repair tissue and improve wound healing with a high safety profile.
research Ovine KRT81 Variants and Their Influence on Selected Wool Traits of Commercial Value
KRT81 gene variations in sheep affect wool weight but not fiber length or thickness.
research Identification of potential key genes and pathways associated with the Pashmina fiber initiation using RNA-Seq and integrated bioinformatics analysis
Key genes and pathways, including Wnt, NF-Kappa, and JAK-STAT, are crucial for starting Pashmina fiber growth in goats.
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 Characterisation of Four New Genes in the Ovine KAP19 Family
Four new genes related to sheep wool were discovered, showing genetic diversity.
research TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology
A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
research Transcriptome sequencing reveals the key genes associated with hair follicle development in Qianhua Mutton Merino
Key genes like KRT27 and IGF-2 are crucial for hair follicle development in Qianhua Mutton Merino sheep.
research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research Cell Cycle Regulation and Regeneration
Mice that can regenerate tissue have cells that pause in the cell cycle, which is important for healing, similar to axolotls.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research SOX11 and SOX4 drive the reactivation of an embryonic gene program during murine wound repair
SOX11 and SOX4 help skin cells act like embryonic cells to heal wounds in mice.
research A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Ritlecitinib: First Approval
Ritlecitinib is approved in the USA and Japan for treating severe hair loss in people aged 12 and older.
research This Month in the Journal
The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
research Screening of Sheep Fibroblast Cell Line with the Spider Dragline Silk Protein Gene
Sheep cells were successfully modified to include a spider silk protein gene.
research Keratin 17 Gene Expression during the Murine Hair Cycle
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
LIPH mutations cause woolly hair in some Chinese people.
research 14-3-3σ Is Required for Club Hair Retention
The 14-3-3σ gene is essential for preventing hair loss.
research 085 Post-translational regulation of hair keratins in transfected COS-1 cells
research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research Rational Design and Synthesis of 4-((1R,2R)-2-Hydroxycyclohexyl)-2(trifluoromethyl)benzonitrile (PF-998425), a Novel, Nonsteroidal Androgen Receptor Antagonist Devoid of Phototoxicity for Dermatological Indications
PF-998425 is a new, effective, and non-phototoxic treatment for skin conditions related to androgens.