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Case Report: Two Individuals With AEBP1-Related Classical-Like EDS - Further Clinical Characterisation and Description of Novel AEBP1 Variants

research Case Report: Two Individuals With AEBP1-Related Classical-Like EDS - Further Clinical Characterisation and Description of Novel AEBP1 Variants

1 citations, April 2023 in “Frontiers in Genetics”

The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.

research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome

20 citations, February 2019 in “Genes”

The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.

research Enzymes

1 citations, November 2011 in “British journal of pharmacology”

Enzymes are classified into six types and are essential for many biological processes, with only a few targeted by drugs.

Generating Detailed Intercellular Communication Patterns in Psoriasis at the Single-Cell Level Using Social Networking, Pattern Recognition, and Manifold Learning Methods to Optimize Treatment Strategies

research Generating Detailed Intercellular Communication Patterns in Psoriasis at the Single-Cell Level Using Social Networking, Pattern Recognition, and Manifold Learning Methods to Optimize Treatment Strategies

January 2024 in “Aging”

New insights into cell communication in psoriasis suggest innovative drug treatments.

research Disease Prevention and Alleviation by Human Myoblast Transplantation

5 citations, January 2016 in “Open Journal of Regenerative Medicine”

Myoblast transplantation shows promise for treating various muscle and heart conditions.

research The Secretome of Irradiated Peripheral Mononuclear Cells Attenuates Hypertrophic Skin Scarring

1 citations, March 2023 in “Pharmaceutics”

PBMCsec can help reduce and improve thick skin scars.

research Early Arabidopsis Root Hair Growth Stimulation by Pathogenic Strains of Pseudomonas Syringae

24 citations, July 2017 in “Annals of botany”

Pathogenic Pseudomonas syringae bacteria stimulate early root hair growth in Arabidopsis plants.

research Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants

5 citations, July 2020 in “JAMA Dermatology”

Minoxidil solution applied twice daily improved hair growth in patients with Woolly Hair/Hypotrichosis due to LIPH gene issues, with mild side effects.

Poster Presentations SG11 KRT14 Pathogenic Or Likely Pathogenic Variants Beyond Epidermolysis Bullosa: Dermatopathia Pigmentosa Reticularis

research Poster Presentations SG11 KRT14 Pathogenic Or Likely Pathogenic Variants Beyond Epidermolysis Bullosa: Dermatopathia Pigmentosa Reticularis

June 2024 in “British Journal of Dermatology”

KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.

research Coinheritance of BRCA2 and CYLD Germline Pathogenic Variants Associated with Targetable Metastatic Malignant Cylindroma

June 2023 in “British Journal of Dermatology”

Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.

research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features

39 citations, September 2018 in “American Journal of Medical Genetics Part A”

research Sex Hormones Modulate Pathogenic Processes in Experimental Traumatic Brain Injury

32 citations, February 2019 in “Journal of neurochemistry”

Sex hormones affect brain injury differently in males and females.

research The Cascading Pathogenic Consequences of Sarcoptes Scabiei Infection That Manifest in Host Disease

31 citations, April 2018 in “Royal Society open science”

Sarcoptes scabiei infection causes significant health and behavior changes in wombats.

research Adenosine A2B Receptor: A Pathogenic Factor and a Therapeutic Target for Sensorineural Hearing Loss

8 citations, December 2020 in “The FASEB Journal”

Blocking adenosine A2B receptor may prevent or treat hearing loss.

research A Novel Pathogenic Variant of NECTIN4 Gene in a Child With Ectodermal Dysplasia-Syndactyly Syndrome

January 2023 in “Indian dermatology online journal”

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

research Targeting Pathogenic MICA-NKG2D Interactions by Statins: A Novel Adjunct Treatment Strategy for Alopecia Areata Management?

November 2022 in “Journal of Investigative Dermatology”

Statins may help treat alopecia areata by reducing harmful immune interactions.

research Distinct Phenotypic and Genomic Signatures Underlie Contrasting Pathogenic Potential of Staphylococcus Epidermidis Clonal Lineages

37 citations, August 2019 in “Frontiers in Microbiology”

Staphylococcus epidermidis A/C strains are more antibiotic-resistant and infection-adapted, while B strains thrive in hair follicles.

research Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling

13 citations, September 2022 in “Biomolecules”

The research confirms that Hidradenitis Suppurativa is characterized by increased inflammation, disrupted skin cell organization, and abnormal metabolic processes.

research Identification and Characterization of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2

8 citations, January 2012 in “JIMD reports”

A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.

research Occult Fungal Infection as the Underlying Pathogenic Cause of Atherogenesis

2 citations, January 2004 in “Medical Hypotheses”

Hidden fungal infections might cause heart disease and clogged arteries.

research Epidermolysis Bullosa Simplex in Children with De Novo Pathogenic Variants Disturbing KRT14

March 2024 in “International journal of molecular sciences”

Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.

research Becker Naevus Syndrome Associated With a Mosaic Pathogenic Variant in ACTB

June 2023 in “British journal of dermatology/British journal of dermatology, Supplement”

A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.

research Phenotypic Heterogeneity of Epidermolysis Bullosa Associated With the Recurrent Pathogenic Variant p.(Arg2000Trp) in Plectin

April 2023 in “Journal of Investigative Dermatology”

The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.

Cross-Comparison of Inflammatory Skin Disease Transcriptomics Identifies PTEN as a Pathogenic Disease Classifier in Cutaneous Lupus Erythematosus

research Cross-Comparison of Inflammatory Skin Disease Transcriptomics Identifies PTEN as a Pathogenic Disease Classifier in Cutaneous Lupus Erythematosus

April 2023 in “Journal of Investigative Dermatology”

PTEN was identified as a specific marker for the skin disease cutaneous lupus erythematosus, and it helps increase the expression of harmful type I interferons.

Skin Organoids Derived From NCSTN Mutated Patient-Induced Pluripotent Stem Cells Recapitulate Hidradenitis Suppurativa Pathogenic Hallmarks

research Skin Organoids Derived From NCSTN Mutated Patient-Induced Pluripotent Stem Cells Recapitulate Hidradenitis Suppurativa Pathogenic Hallmarks

November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.

research Hyposecretion of the Adrenal Androgen Dehydroepiandrosterone Sulfate (DHEA-S) in the Majority of Alopecia Areata Patients: Is It a Primitive and Pathogenic Perturbation of the Hypothalamic-Pituitary-Adrenal Axis?

3 citations, January 2011 in “International journal of trichology”

Low DHEA-S levels might be linked to alopecia areata and could be a potential treatment target.

research MiR-199a-3p Regulates the PTPRF/β-Catenin Axis in Hair Follicle Development: Insights into the Pathogenic Mechanism of Alopecia Areata

1 citations, December 2023 in “International journal of molecular sciences”

miR-199a-3p controls hair growth and is linked to alopecia areata.

research The Glucocorticoid Resistance Syndrome: Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene

December 2023 in “JCEM case reports”

A new gene variant causes glucocorticoid resistance in a mother and son.

research Faculty Opinions Recommendation of Association of Topical Minoxidil with Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants

July 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature”

In Vivo and In Vitro Exposure to Free Fatty Acids Induce Increased Androgen Production in Animal Models: A Potential Pathogenic Factor of Polycystic Ovary Syndrome

research In Vivo and In Vitro Exposure to Free Fatty Acids Induce Increased Androgen Production in Animal Models: A Potential Pathogenic Factor of Polycystic Ovary Syndrome

September 2008 in “Fertility and Sterility”

Free fatty acids may increase androgen production, potentially contributing to polycystic ovary syndrome.