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research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

9 citations , May 2014 in “BMC medical genetics”

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

research Arabidopsis retromer subunit AtVPS29 is involved in SLY1-mediated gibberellin signaling

February 2024 in “Plant Cell Reports”

AtVPS29 is essential for proper plant growth by regulating gibberellin signaling.

research Polarity signaling ensures epidermal homeostasis by coupling cellular mechanics and genomic integrity

38 citations , July 2019 in “Nature Communications”

Par3 protein is essential for skin cell balance and stability.

research 441 Anti-melanoma gene signature in dermal sheath fibroblasts from scalp hair follicles in Recessive Dystrophic Epidermolysis Bullosa (RDEB)

November 2024 in “Journal of Investigative Dermatology”

research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations

115 citations , October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism”

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

research Faculty Opinions recommendation of Expression of truncated latent TGF-beta-binding protein modulates TGF-beta signaling.

May 2005 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature”

Truncated LTBP-1 disrupts TGF-beta signaling, affecting hair growth.

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 Regenerative Hair Pigmentation via Skin Organoids: Adaptive Patterning Mediated by Collagen VI and Semaphorin 3C

July 2025 in “Advanced Science”

Collagen VI and Semaphorin 3C are important for hair pigmentation and could help treat pigmentation disorders.

research A novel 22-bp InDel within FGF7 gene is significantly associated with growth traits in goat

6 citations , October 2023 in “Animal Biotechnology”

A specific gene variation in goats is linked to better growth traits.

research Gene Expression Profiles of Melanocytes Over-Expressing miR-5110 in Alpaca

January 2026 in “Current Issues in Molecular Biology”

miR-5110 affects alpaca pigmentation by altering specific gene expressions.

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