research Genetics of Inherited Ichthyoses and Related Diseases
New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
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research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research 157 Analysis of the hybrid schwannoma and neurofibroma including a case report of schwannomatosis caused by a mutation in the LZTR1 gene
Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
research Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits
Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
research Efficient Gene Editing for Heart Disease via ELIP-Based CRISPR Delivery System
ELIP-based CRISPR delivery improves heart disease gene editing but needs more testing.
research scINSIGHT for interpreting single-cell gene expression from biologically heterogeneous data
scINSIGHT helps understand single-cell gene expression better than current methods.
research The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
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 A mechanism-informed deep neural network enables prioritization of regulators that drive cell state transitions
A new neural network helps identify key regulators in cell changes, aiding in understanding diseases and finding new treatments.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research TRPS1 haploinsufficiency results in increased STAT3 and SOX9 mRNA expression in hair follicles in trichorhinophalangeal syndrome
Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
research Regulation of somatic cell reprogramming through inducible mir-302 expression
Increasing mir-302 turns human hair cells into stem cells by changing gene regulation and demethylation.
research Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
research Sex differences in SARS-CoV-2 infection rates and the potential link to prostate cancer
Men, especially older ones with health issues like prostate cancer, may have worse COVID-19 outcomes and could benefit from therapies targeting male hormones.
research Control of hair follicle cell fate by underlying mesenchyme through a CSL–Wnt5a–FoxN1 regulatory axis
Notch/CSL signaling controls hair follicle differentiation through Wnt5a and FoxN1.
research Inducible deletion of epidermal Dicer and Drosha reveals multiple functions for miRNAs in postnatal skin
Drosha and Dicer are essential for hair follicle health and preventing DNA damage in skin cells.
research A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia
Researchers created a mouse model of a type of rickets that does not cause hair loss.
research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research Immunolocalization of a Histidine-Rich Epidermal Differentiation Protein in the Chicken Supports the Hypothesis of an Evolutionary Developmental Link between the Embryonic Subperiderm and Feather Barbs and Barbules
A specific protein in chicken embryos links early skin layers to feather development.
research Analysis of lncRNAs Expression Profiles in Hair Follicle of Hu Sheep Lambskin
lncRNAs may regulate hair follicle development in Hu sheep.
research Complex Changes in the Apoptotic and Cell Differentiation Programs during Initiation of the Hair Follicle Response to Chemotherapy
Chemotherapy causes complex changes in hair follicle cells that can lead to hair loss.
research Overlap Between Ulerythema Ophryogenes and Keratosis Follicularis Spinulosa Decalvans: a Case Report
A 19-year-old male had two rare skin conditions causing scarring and permanent hair loss.
research Deletion of adipocyte Sine Oculis Homeobox Homolog 1 prevents lipolysis and attenuates skin fibrosis
Removing SIX1 in fat cells reduces skin fibrosis.
research Molecular heterogeneity of quiescent melanocyte stem cells revealed by single-cell RNA-sequencing
Different types of inactive melanocyte stem cells exist with unique characteristics and potential to develop into other cells.
research LncRNAs regulate the cyclic growth and development of hair follicles in Dorper sheep
Certain long non-coding RNAs are important for controlling hair growth cycles in sheep.
research T cell and bacterial microbiota interaction at intestinal and skin epithelial interfaces
T cells and bacteria in the gut and skin help maintain health and protect against disease.
research 570 DNA dioxygenases Tet1/2/3 control cell differentiation in the hair follicle keratinocytes via modulating the activity of BMP signaling pathway
Tet1/2/3 enzymes affect hair follicle cell development by influencing BMP signaling.
research 574 Murine sebaceous gland homeostasis requires intact cutaneous innervation in a hair cycle-dependent context
Mouse skin glands need healthy nerves to grow properly during hair growth phases.
research 573 Hair follicles employ a 2-dimensional healing strategy to repair 3-dimensional injuries
Hair follicles repair 3D injuries using a 2D healing process.
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.