research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
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research Molecular genetics of androgen insensitivity
Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
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 Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes
The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
research Streamlined intravital imaging approach for long-term monitoring of epithelial cell dynamics on an inverted confocal microscope
A new tool allows easier long-term imaging of live skin cells, helping study diseases like skin cancer.
research The Inflammatory Caspases-1 and -11 Mediate the Pathogenesis of Dermatitis in Sharpin-Deficient Mice
Certain proteins, caspases-1 and -11, are important in the early development of skin inflammation in mice.
research Recurrent Pregnancy Loss Associated Cytogenetic and Genetic Anomalies – Study from Eastern India
Genetic variations contribute to over 10% of recurrent early pregnancy loss cases.
research Hard Keratin IF and Associated Proteins
research Hoxc13 polyglycine repeat gain-of-function drives mammalian integument evolution by altering targeted genes and interactions
The polyG fragment in Hoxc13 protein helps evolve mammalian skin and hair by enhancing gene interactions.
research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research A Ca 2+ /calmodulin-dependent protein kinase required for symbiotic nodule development: Gene identification by transcript-based cloning
The DMI3 gene is essential for nodule development and symbiosis in certain plants.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Decision letter for "Advantages of Incomplete Digestion in Human Hair Shaft Proteomics, a Focus on Cuticular Keratins"
research Decision letter for "Advantages of Incomplete Digestion in Human Hair Shaft Proteomics, a Focus on Cuticular Keratins"
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research Different orientation of the incisions: an efficient method to facilitate the implantation process
Changing the direction of cuts can make it easier to put in implants.
research Itpr3 Is Responsible for the Mouse Tufted (tf) Locus
The Itpr3 gene causes a specific hair pattern in mice.
research Advantages of Incomplete Digestion in Human Hair Shaft Proteomics, a Focus on Cuticular Keratins
The new method improves protein extraction and analysis in hair, aiding biomedical and forensic work.
research ‘Hard’ and ‘soft’ principles defining the structure, function and regulation of keratin intermediate filaments
Keratin filaments are crucial for cell structure and protection, with ongoing discoveries about their genes and functions.
research PRC 2 preserves intestinal progenitors and restricts secretory lineage commitment
PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research Identification of differentially expressed genes in actinic keratosis samples treated with ingenol mebutate gel
Ingenol mebutate gel changes gene expression related to skin development and immune response in actinic keratosis.
research Skin regional specification and higher-order HoxC regulation
A specific DNA duplication in Polish chickens affects feather shape by altering gene expression.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research QuantAnts machines discover biomarkers for RAS signaling activation and design sgRNAs for CRISPR to target complex CD9, CD34, and CD74.
The QuantAnts machines can find cancer markers and create CRISPR targets for them.
research Host-microbiome interactions and recent progress into understanding the biology of acne vulgaris
Acne is linked to complex skin microbe interactions, and new findings suggest microbiome-based treatments could be effective.
research FGF5 is a crucial regulator of hair length in humans
FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.