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research 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells

1 citations , September 2019 in “Journal of Investigative Dermatology”

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 Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation

57 citations , August 2002 in “American Journal Of Pathology”

Cathepsin L deficiency causes hair and skin issues in mice.

research Impact of mTORC1 inhibition on keratinocyte proliferation during skin tumor promotion in wild‐type and BK5.Akt^WT mice

8 citations , September 2013 in “Molecular carcinogenesis”

Rapamycin reduces skin cell growth and tumor development by affecting cell signaling in mice.

research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin

48 citations , April 2008 in “Human Molecular Genetics”

Progerin affects cell shape but not hair or skin in mice.

research Genetically separable determinants of hair keratin gene expression

27 citations , January 2000 in “Developmental Dynamics”

Mutations in the Whn gene affect hair keratin gene expression differently.

research Human KAP Genes, Only the Half of it? Extensive Size Polymorphisms in Hair Keratin-Associated Protein Genes

53 citations , June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology”

KAP genes show significant genetic variability, but its impact on hair traits is unclear.

research Directed Expression of Keratin 16 to the Progenitor Basal Cells of Transgenic Mouse Skin Delays Skin Maturation

79 citations , August 1998 in “The Journal of Cell Biology”

Keratin 16 delays skin maturation and affects skin and hair development in mice.

research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine

5 citations , January 2011 in “Archives de Pédiatrie”

A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.

research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis

January 2026 in “Animal Genetics”

A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.

research Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13

43 citations , April 1996 in “Journal of Investigative Dermatology”

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