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Case of Epidermolytic Ichthyosis with a Novel L157P Mutation in KRT10 Complicated by Hypercalcemia

research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia

October 2011 in “Journal of dermatology”

A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.

research Immunohistochemical Demonstration of Keratin 19 Expression in Isolated Human Hair Follicles

43 citations , August 1994 in “Journal of Investigative Dermatology”

research Bidirectional binding property of high glycine–tyrosine keratin-associated protein contributes to the mechanical strength and shape of hair

46 citations , June 2013 in “Journal of structural biology”

High glycine–tyrosine keratin-associated proteins help make hair strong and maintain its shape.

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 Altered expression of keratin 14 in lesional epidermis of autoimmune skin diseases

15 citations , November 2015 in “International Journal of Dermatology”

Keratin 14 may be an autoantigen in autoimmune skin diseases.

research Keratin 19: Predicted Amino Acid Sequence and Broad Tissue Distribution Suggest it Evolved from Keratinocyte Keratins.

238 citations , May 1989 in “Journal of Investigative Dermatology”

research The molecular basis of human keratin disorders

79 citations , February 2009 in “Human Genetics”

12-O-Tetradecanoylphorbol-13-Acetate Induces Apoptosis in Renal Epithelial Cells Through a Growth Signal Conflict Prevented by Activated Ras

research 12-O-Tetradecanoylphorbol-13-acetate Induces Apoptosis in Renal Epithelial Cells through a Growth Signal Conflict Which Is Prevented by Activated ras1

4 citations , January 2001 in “Archives of Biochemistry and Biophysics”

Activated ras can protect kidney cells from a certain substance that causes cell death.

research Two Mechanisms Regulate Keratin K15 Expression In Keratinocytes: Role of PKC/AP-1 and FOXM1 Mediated Signalling

35 citations , June 2012 in “PloS one”

Keratin 15 expression in skin cells is regulated by two mechanisms involving PKC/AP-1 and FOXM1.

research [An immunohistochemical study on the normal human skin using an anti-hair keratin monoclonal antibody (HKN-2)].

February 1985 in “PubMed”

research Matriptase/MT-SP1 is required for postnatal survival, epidermal barrier function, hair follicle development, and thymic homeostasis

324 citations , May 2002 in “Oncogene”

research Expression of Keratin 75 (K6hf) in Oral Squamous Cell Carcinoma

2 citations , January 2011 in “Dental Medicine Research”

Keratin 75 might be important in oral cancer progression.

research 647 Alternative splicing factor Esrp1 controls homeostasis of skins by regulating barrier formation and function

April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology”

Esrp1 is important for skin health by helping form and maintain the skin barrier.

Cthrc1 Deficiency Aggravates Wound Healing and Promotes Cardiac Rupture After Myocardial Infarction via Non-Canonical WNT5A Signaling Pathway

research Cthrc1 deficiency aggravates wound healing and promotes cardiac rupture after myocardial infarction via non-canonical WNT5A signaling pathway

9 citations , January 2023 in “International Journal of Biological Sciences”

CTHRC1 is essential for healing and preventing heart rupture after a heart attack.

research Phosphofructokinase (Pfk) Regulation of Glycolysis in Skin

19 citations , September 1971 in “Journal of Investigative Dermatology”

research Human hair keratins

90 citations , July 1993 in “Journal of Investigative Dermatology”

research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes

September 2016 in “Journal of Dermatological Science”

A gene mutation worsens skin irritation in mice due to a lack of certain fats.

research The T-cell antigen receptor: paradigm recalled

October 1984 in “Immunology Today”

research Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans

126 citations , October 1998 in “Experimental Dermatology”

The hr gene is crucial for skin and hair health, with mutations causing hair disorders.

Neutralization of IL-8 Prevents Dermatologic Adverse Events Associated with Epidermal Growth Factor Receptor Inhibition

research Neutralization of IL-8 Prevents the Induction of Dermatologic Adverse Events Associated with the Inhibition of Epidermal Growth Factor Receptor

32 citations , June 2012 in “PLoS ONE”

Blocking IL-8 can reduce skin rashes from cancer treatment.

research K6/ODC transgenic mice as a sensitive model for carcinogen identification

57 citations , July 2000 in “Toxicology Letters”

K6/ODC transgenic mice are effective for quickly identifying cancer-causing chemicals.

research 50285 Oxytocin receptor is present in keratinocytes near touch and pain sensory neurons

September 2024 in “Journal of the American Academy of Dermatology”

Oxytocin receptors are found in skin cells near touch and pain neurons.

research Integrin-linked kinase inhibition via QLT0267 stops the epithelial outgrowth.

December 2015 in “OPAL (Open@LaTrobe) (La Trobe University)”

QLT0267 stops hair follicle cell growth and movement.

research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome

April 2017 in “Journal of Investigative Dermatology”

Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.

research Keratins and skin disease

69 citations , January 2015 in “Cell & tissue research/Cell and tissue research”

Keratin mutations cause skin diseases and could lead to new treatments.

research Keratin cytoskeletons in epithelial cells of internal organs

482 citations , June 1979 in “Proceedings of the National Academy of Sciences”

Keratins provide structural strength in epithelial cells and help identify cell origins.

research Is thyrotropin-releasing hormone a novel neuroendocrine modulator of keratin expression in human skin?

10 citations , February 2013 in “British Journal of Dermatology”

Thyrotropin-releasing hormone may help control skin and hair growth and could aid in treating related disorders.

research Receptor tyrosine kinase Kit action in skin melanocytes: is it exclusively cell autonomous?

1 citations , August 2015 in “Experimental Dermatology”

KIT's role in skin cells is not entirely independent, as other cells can influence its function.

research Mice humanised for the EGF receptor display hypomorphic phenotypes in skin, bone and heart

125 citations , August 2003 in “Development”

Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.

Differential Expression of Keratin and Keratin-Associated Proteins Linked with Hair Loss in Spontaneously Mutated Inbred Mice

research Differential expression of keratin and keratin associated proteins are linked with hair loss condition in spontaneously mutated inbred mice

July 2024 in “bioRxiv (Cold Spring Harbor Laboratory)”

Hair loss in certain mice is linked to changes in keratin-related genes.

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