research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
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900-930 / 1000+ results research Distinct transcriptomic landscapes of cutaneous basal cell carcinomas and squamous cell carcinomas
Basal cell carcinomas and squamous cell carcinomas have different gene activity patterns, suggesting unique treatment approaches.
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 Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne
Genetic variations affecting skin structure play a key role in severe acne.
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 Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects
Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
research An Integrated Analysis of Cashmere Fineness lncRNAs in Cashmere Goats
lncRNA XLOC_008679 and gene KRT35 affect cashmere fineness in goats.
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 Identification and Expression of the Target Gene SLC24A2 of oar-miR-377 and Its Novel SNPs Effects on Wool Traits in Sheep
A specific genetic variation affects wool quality in sheep.
research 464 Spatial transcriptomics links gene expression profiles to functional and structural traits of darkly pigmented skin
Dark skin has stronger barriers and structure due to specific gene activity.
research Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
research Data Sheet 1_A partially automated method for DNA extraction from marmoset hair follicles to avoid blood chimerism.docx
Researchers created an efficient method to extract DNA from marmoset hair, reducing blood chimerism.
research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
research Analysis Polymorphism of Androgen Receptor in Cases of Androgenetic Alopecia
Shorter GGN repeats in the androgen receptor gene are linked to androgenetic alopecia.
research Expression of Hex during feather bud development
Hex gene plays a crucial role in starting feather development in chick embryos.
research Polycomb repressive complex 2 in adult hair follicle stem cells is dispensable for hair regeneration
Polycomb Repressive Complex 2 is not needed for hair regeneration.
research Runx1 transcription factor is involved in the regulation of KAP5 gene expression in human hair follicles
Runx1 helps control the KAP5 gene in human hair follicles.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
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 Identification of the Ovine Keratin-Associated Protein 26-1 Gene and Its Association with Variation in Wool Traits
Selecting specific KRTAP26-1 gene variants can improve wool quality in sheep.
research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research GPRC6A-Duox1 Axis Regulates the Hair Cycle Through H2O2 Generation
The GPRC6A-Duox1 axis helps control hair growth and loss by affecting hydrogen peroxide production.
research Cost-effectively dissecting the genetic architecture of complex wool traits in rabbits by low-coverage sequencing
Low-coverage sequencing is a cost-effective way to find genetic factors affecting rabbit wool traits.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
research A Window into Mammalian Basement Membrane Development: Insights from themTurq2-Col4a1Mouse Model
The mTurq2-Col4a1 mouse model shows that cells can divide while attached to stable basement membranes during development.
research Overexpression of human keratin 16 produces a distinct skin phenotype in transgenic mouse skin
High levels of human keratin 16 in mice cause skin lesions and abnormal skin development.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease
Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.