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Genetic Alteration of Cyclic Adenosine 3',5'-Monophosphate-Dependent Protein Kinase Subunit Expression Affects Calcium Currents and Beta-Endorphin Release in AtT-20 Clonal Pituitary Cells

research Genetic alteration of cyclic adenosine 3',5'-monophosphate-dependent protein kinase subunit expression affects calcium currents and beta-endorphin release in AtT-20 clonal pituitary cells.

August 1994 in “Molecular Endocrinology”

Changing protein kinase levels in pituitary cells affects calcium flow and beta-endorphin release.

research A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis

21 citations , June 2009 in “Mammalian genome”

A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.

research Recombinant Thrombomodulin Used to Successfully Treat Cronkhite-Canada Syndrome with Disseminated Intravascular Coagulation due to Sepsis in a Compromised Patient

3 citations , June 2018 in “Internal Medicine”

Recombinant thrombomodulin can effectively treat severe complications in Cronkhite-Canada syndrome.

research The Mean Staple Length of Wool Fibre Is Associated with Variation in the Ovine Keratin-Associated Protein 21-2 Gene

4 citations , January 2020 in “Genes”

The KRTAP21-2 gene affects wool length and quality in sheep.

research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6

29 citations , August 1999 in “Journal of Investigative Dermatology”

New mutations in hair keratin genes cause the rare hair disorder monilethrix.

research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome

11 citations , December 2017 in “Orphanet Journal of Rare Diseases”

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

research Characterization of Human KAP24.1, A Cuticular Hair Keratin-Associated Protein with Unusual Amino-Acid Composition and Repeat Structure

51 citations , January 2007 in “The journal of investigative dermatology/Journal of investigative dermatology”

Scientists discovered a unique hair protein, KAP24.1, with a special structure, found only in the upper part of hair cuticles.

research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia

37 citations , October 2006 in “Archives of Biochemistry and Biophysics”

A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.

research Deletions in the KAP6-1 gene are associated with fiber traits in cashmere-producing goats

1 citations , February 2021 in “Animal biotechnology”

Certain changes in the KAP6-1 gene affect the thickness and length of cashmere goat fibers.

research The molecular basis of human keratin disorders

79 citations , February 2009 in “Human Genetics”

research A Ca ²⁺ /calmodulin-dependent protein kinase required for symbiotic nodule development: Gene identification by transcript-based cloning

477 citations , March 2004 in “Proceedings of the National Academy of Sciences”

The DMI3 gene is essential for nodule development and symbiosis in certain plants.

research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix

175 citations , August 1997 in “Nature Genetics”

research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide

130 citations , January 2000 in “Nature biotechnology”

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

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.

research Reprogramming of human keratinocytes into functional cardiomyocytes

September 2015 in “Italian Journal of Anatomy and Embryology”

Human skin cells can be turned into heart cells.

research Impaired Lef1 activation accelerates iPSC-derived keratinocytes differentiation in Hutchinson-Gilford Progeria Syndrome

2 citations , February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)”

Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.

research Clinical Snippets

June 2005 in “Journal of Investigative Dermatology”

A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.

research PA11 A rare case of a severe papulopustular dermatosis secondary to a germline EGFR mutation

June 2026 in “British Journal of Dermatology”

A rare genetic mutation in the EGFR gene caused severe skin issues and other health problems in a Slovakian girl, who is now 4 years old and receiving care.

research A novel calmodulin‐interacting Domain of Unknown Function 506 protein represses root hair elongation in Arabidopsis

14 citations , March 2022 in “Plant Cell & Environment”

The protein AtRXR3 limits root hair growth in Arabidopsis, affecting phosphorus uptake.

research Discovery of a novel murine keratin 6 (K6) isoform explains the absence of hair and nail defects in mice deficient for K6a and K6b

101 citations , August 2001 in “The Journal of Cell Biology”

A new keratin 6 type in mice explains why some mice without certain keratin genes still have normal hair and nails.

research Impaired LEF1 Activation Accelerates iPSC-Derived Keratinocytes Differentiation in Hutchinson-Gilford Progeria Syndrome

1 citations , May 2022 in “International journal of molecular sciences”

Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.

research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome

April 2016

Defective protein folding due to a mutation is key in ANE syndrome.

research Mitogen‐regulated protein/proliferin mRNA induction following single applications of tumor promoters to murine skin

May 2005 in “Molecular Carcinogenesis”

mrp/plf-mRNA can indicate tumor-promoting effects in skin.

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 Trichothiodystrophy

1 citations , January 2008

The Relationship Between Keratin 18 and Epithelial-Derived Tumors: As a Diagnostic Marker, Prognostic Marker, and Its Role in Tumorigenesis

research The relationship between keratin 18 and epithelial-derived tumors: as a diagnostic marker, prognostic marker, and its role in tumorigenesis

October 2024 in “Frontiers in Oncology”

Keratin 18 helps diagnose and predict cancer progression and affects cancer growth and spread.

research Drug Repurposing against KRAS Mutant G12C: A Machine Learning, Molecular Docking, and Molecular Dynamics Study

December 2022 in “International Journal of Molecular Sciences”

Afatinib, neratinib, and zanubrutinib could be effective against KRASG12C-mutant tumors.

research Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis

59 citations , November 2011 in “Development”

Trps1 is essential for proper hair follicle development.

research The epidermal growth factor receptor decreases Stathmin 1 and triggers catagen entry in the mouse

10 citations , December 2015 in “Experimental dermatology”

EGFR helps mouse hair follicles stop growing by reducing certain growth regulators.

research Genetic Tools for Cell Lineage Tracing and Profiling Developmental Trajectories in the Skin

6 citations , April 2024 in “Journal of Investigative Dermatology”

CRISPR-based tools improve understanding and treatment of skin development and conditions.

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