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RPGRIP1L Facilitates Desmosomal Adhesion Through Suppressing PKCβII-Mediated Desmoglein Endocytosis: Implication in Pemphigus

research 441 RPGRIP1L facilitates desmosomal adhesion through suppressing PKCβII-mediated desmoglein endocytosis: Implication in pemphigus

April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology”

RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.

research Tru9I Variant as a Novel Genetic Marker for Vitamin D Deficiency in Alopecia Areata

March 2025 in “Clinical Cosmetic and Investigational Dermatology”

The Tru9I variant in the VDR gene may influence alopecia areata risk and vitamin D levels.

research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis

1 citations , December 2016 in “Revista română de medicină de laborator”

The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.

research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome

1 citations , November 2024 in “Diabetes Metabolic Syndrome and Obesity”

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family

research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family

9 citations , March 2018 in “European journal of dermatology/EJD. European journal of dermatology”

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

research Disruption of tubular Flcn expression as a mouse model for renal tumor induction

29 citations , June 2015 in “Kidney International”

Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.

research LncRNA RP11-818O24.3 promotes hair-follicle recovery via FGF2-PI3K/Akt signal pathway

4 citations , May 2024 in “Cytotechnology”

research Production of a 135-residue long N-truncated human keratinocyte growth factor 1 in Escherichia coli

2 citations , May 2022 in “Research Square (Research Square)”

KGF-1 135 is a stable and effective alternative for treating oral mucositis.

Oncogenic Ras Mutation Induces Spatiotemporally Specific Tissue Deformation Through Converting Fluctuated Into Sustained ERK Activation

research LB1011 Oncogenic ras mutation induces spatiotemporally specific tissue deformation through converting fluctuated into sustained ERK activation

July 2022 in “Journal of Investigative Dermatology”

A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.

research Structure and site of expression of a murine type II hair keratin

18 citations , February 1992 in “Molecular Biology Reports”

A specific type II hair keratin was identified and found in hair cortex and tongue cells.

research Identification of the Novel Membrane-Associated Protein AgK114 on Hamster Keratinocytes Recognized by a Monoclonal Antibody K114

4 citations , January 2004 in “Biological and Pharmaceutical Bulletin”

AgK114 protein helps in hamster skin injury recovery.

research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.

May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature”

A mutation in the KRT74 gene causes woolly hair by affecting hair texture.

research Single‐center study to determine the safety and efficacy of CT‐707 in Chinese patients with advanced anaplastic lymphoma kinase‐rearranged non‐small‐cell lung cancer

5 citations , March 2020 in “Thoracic Cancer”

CT-707 is effective and safe for treating certain Chinese lung cancer patients.

research Pyruvate Kinase M2 Accelerates Cutaneous Wound Healing via Glycolysis and Wnt/β-Catenin Signaling

10 citations , July 2023 in “Pharmaceutics”

Activating PKM2 and Wnt/β-catenin signaling speeds up wound healing.

research Planar Cell Polarity Cadherin Celsr1 Regulates Skin Hair Patterning in the Mouse

92 citations , April 2009 in “Journal of Investigative Dermatology”

The Celsr1 gene is crucial for normal hair patterning in mice.

research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis

23 citations , December 2013 in “British Journal of Dermatology”

A new gene mutation linked to a skin condition was found in a Spanish family.

research Inducible cre-mediated N-ras activation and PTEN inactivation in transgenic mouse melanocytes requires keratinocyte hyperplasia to elicit a melanocyte pathology

January 2005 in “Enlighten: Publications (The University of Glasgow)”

Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.

research Role of BK channels and Kv4.2 channels in the electrophysiological properties of Merkel cells in rat whisker hair follicles

October 2025 in “Journal of Neurophysiology”

BK and Kv4.2 channels help Merkel cells in rat whiskers sense touch.

research A Girl with a Novel Splice Site Mutation in <i>VDR</i> Supports the Role of a Ligand-Independent VDR Function on Hair Cycling

21 citations , January 2006 in “Hormone Research in Paediatrics”

A mutation in the VDR gene affects hair cycling without needing ligand binding.

research An epistatic effect of KRT25 on SP6 is involved in curly coat in horses

13 citations , April 2018 in “Scientific Reports”

The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.

research Expression of caspase-14 and keratin-19 in the human epidermis and appendages during fetal skin development

19 citations , February 2013 in “Archives of Dermatological Research”

research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene

7 citations , August 2017 in “Genetic testing and molecular biomarkers”

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.