research Primary Cutaneous Rhabdoid Squamous Cell Carcinoma: A Case Report and Review of Molecular Features
Recognizing RSCC is crucial due to its aggressive nature and high risk of poor outcomes.
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330-360 / 1000+ resultsresearch 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 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 Regulatory Effects of Thai Rice By-Product Extracts from Oryza sativa L. cv. Bue Bang 3 CMU and Bue Bang 4 CMU on Melanin Production, Nitric Oxide Secretion, and Steroid 5α-Reductase Inhibition
BB4CMU rice bran oil may help treat hair loss and gray hair.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
research Expression and Analysis of TBX3 Gene in the Skin from Three Locations on Dun Mongolian Bider Horse
TBX3 gene affects horse coat color, with higher expression in darker areas.
research CRISPR/Cas9-mediated Generation ofCOL7A1-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa
Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
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.
research Integrating whole-genome re-sequencing and transcriptome data to reveal the molecular mechanism of TBX5 gene regulating feathered feet in Guangxi native chickens
TBX5 gene influences feathered feet in Guangxi chickens by affecting cell growth and movement.
research The RpoS Gatekeeper in Borrelia burgdorferi: An Invariant Regulatory Scheme That Promotes Spirochete Persistence in Reservoir Hosts and Niche Diversity
RpoS helps Borrelia burgdorferi survive in hosts and adapt to different environments.
research Site of beige (bg) and leaden (ln) pigment gene expression determined by recombinant embryonic skin grafts and aggregation mouse chimaeras employing sash (Wsh) homozygotes
Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.
research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
research A 40-Year-Old Woman With Facial Papules and Flank Pain
Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
research The Notch Intracellular Domain Has an RBPj-Independent Role during Mouse Hair Follicular Development
The Notch signaling pathway helps in mouse hair development through a noncanonical mechanism that does not rely on RBPj or transcription.
research A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu
A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
research The Circular RNA CircCOL1A1 Functions as a miR-149-5p Sponge to Regulate the Formation of Superior-Quality Brush Hair via the CMTM3/AR Axis
A specific RNA molecule, circCOL1A1, affects the growth and quality of goat hair by interacting with miR-149-5p and influencing cell growth pathways.
research Isolation and Characterization of a Putative Keratin-Associated Protein Gene Expressed in Embryonic Skin of Mice
The 4C32 gene may help in mouse skin development and differentiation.
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 A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research Effects of Exogenous Melatonin on the Gene Expression of BMP2 in the Skin of Inner Mongolia Cashmere Goat
Melatonin reduces BMP2 gene expression in goat hair follicles during the resting period.
research B-Raf and C-Raf Are Required for Melanocyte Stem Cell Self-Maintenance
B-Raf and C-Raf are essential for maintaining melanocyte stem cells to prevent hair graying.
research Genetic architecture of mouse skin inflammation and tumour susceptibility
Lgr5 and the vitamin D receptor are key in controlling skin inflammation and tumor risk in mice.
research Venus trap in the mouse embryo reveals distinct molecular dynamics underlying specification of first embryonic lineages
Tmem50b and 2610305D13Rik genes play key roles in early mouse embryo development.
research The compatibility of Bacillus thuringiensis Cry protein-solubilizing buffers with the droplet feeding method in fall armyworm larvae
Thymosin beta 4 protects cells from damage by blocking a harmful microRNA and boosting a protective gene.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research hsa_circ_0002980 prevents proliferation, migration, invasion, and epithelial-mesenchymal transition of liver cancer cells through microRNA-1303/cell adhesion molecule 2 axis
hsa_circ_0002980 can help stop liver cancer cells from growing and spreading.