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Analysis of Hidradenitis Suppurativa-Linked Mutations in Four Genes and the Effects of PSEN1-P242LfsX11 on Cytokine and Chemokine Expression in Macrophages

research Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages

25 citations , December 2018 in “Human Molecular Genetics”

The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.

research Measurement of Serum Prolactin Level in Vitiligo Patients and its Correlation with Prolactin Gene Polymorphism

January 2021 in “Benha Journal of Applied Sciences”

Prolactin levels and gene polymorphism are not linked to vitiligo severity but are related to BMI.

research Increased PHGDH expression uncouples hair follicle cycle progression and promotes inappropriate melanin accumulation

1 citations , January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)”

Increased PHGDH expression causes early melanin buildup in hair follicles.

research Premature aging syndromes: From patients to mechanism

29 citations , October 2019 in “Journal of dermatological science”

Studying premature aging syndromes helps understand human aging and suggests potential treatments.

research Prolactin—a novel neuroendocrine regulator of human keratin expressionin situ

64 citations , January 2010 in “The FASEB Journal”

Prolactin affects the production of different keratins in human hair, which could lead to new treatments for skin and hair disorders.

research Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21

37 citations , January 1993 in “Journal of Investigative Dermatology”

research The International Journal of Cell Differentiation and Proliferation

January 2020 in “Stem Cells”

PLA2R1 Overexpression Causes Podocyte Injury by Inhibiting the Cell Cycle: A Clinical Cross-Sectional Investigation and Cellular Study

research PLA2R1 Overexpression Causes Podocyte Injury by Inhibiting the Cell Cycle: A Clinical Cross-Sectional Investigation and Cellular Study

June 2025 in “International Journal of Nephrology and Renovascular Disease”

PLA2R1 overexpression harms kidney cells by stopping their growth cycle.

research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair

August 2016 in “Journal of Investigative Dermatology”

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

research Effects of TGFBR1 on Proliferation of Dermal Papilla Cells in Fine-Wool Sheep

December 2025 in “Animals”

TGFBR1 slows down cell growth in fine-wool sheep hair follicles.

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