Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study found that transgenic mice with keratinocyte-specific overexpression of CtBP1 exhibited abnormal hair follicle development, suggesting CtBP1 may play a pathogenic role in hair morphogenesis.

In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.

This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.

KAP8.1 protein is crucial for hair structure and interacts with keratin 85.

Deleting Crif1 in mouse skin disrupts skin balance and hair growth.

In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.

This study found that GPC1 is a key regulator of angiogenesis in human dermal microvascular endothelial cells, influenced by factors secreted by keratinocytes, and may be a target for alopecia treatment research.

This study found that mutations in the PADI3 gene, which is important for hair shaft formation, may contribute to central centrifugal cicatricial alopecia among patients.

This study identified a domain on human chromosome 21q22.1 containing various high glycine-tyrosine and high sulfur keratin-associated protein genes, revealing their diverse expression in hair-forming cells.

This study identified the Arabidopsis cation chloride cotransporter CCC1 as essential for regulating pH and function in the trans-Golgi network/early endosome, with its absence causing significant growth and stress response defects.

Phospholipase Cδ1 is crucial for normal skin and hair development.

This study demonstrates that α-parvin is crucial for epidermal morphogenesis and hair follicle development by mediating integrin-dependent adhesion and actin organization in keratinocytes.

This study found that β1 integrin-mediated signaling is crucial for the survival, adhesion, and migration of epithelial progenitor cells in human scalp hair follicles, with varying responses observed among cell subpopulations.

This study found that PRC2 plays a crucial role in maintaining intestinal homeostasis by supporting progenitor cell proliferation and limiting secretory lineage differentiation.

This study found that inhibiting AP-1 activity in mice modified tumor development, leading to transdifferentiation between squamous and sebaceous tumors, with molecular analysis suggesting AP-1's role in maintaining tumor cell identity.

This study found that disruptions in planar cell polarity signaling are implicated in congenital heart defects and cardiomyopathy in developing mouse hearts, associated with early cardiomyocyte disorganization and improper heart looping.

This study found that ICAM-1 expression in murine skin is developmentally regulated and crucial for skin and hair follicle remodeling beyond its recognized role in immune responses.

This study identified a key Arabidopsis thaliana gene, TIP1, whose product is involved in S-acylation crucial for normal plant cell growth, particularly affecting root hair development.

AGD1 is important for root hair development in Arabidopsis, working with phosphoinositide signaling and the actin cytoskeleton.

This study isolated and sequenced the complete gene rKAP4L1, which encodes a cysteine-rich hair keratin-associated protein in rabbit hair follicles.

This study observed that β-catenin overexpression in human squamous cell carcinoma cells led to increased CREB expression, which significantly enhanced clonogenic activity, suggesting CREB as a β-catenin-regulated factor promoting cancer characteristics.

This study found that the Arabidopsis thaliana protein Formin 2 localizes to plasmodesmata and is crucial for regulating their permeability by anchoring actin filaments, which affects virus susceptibility.

This study found that in Arabidopsis seedlings, tonoplast intrinsic proteins are targeted to the vacuole via at least two pathways, including pathways with differing sensitivity to a chemical inhibitor that affect root hair growth and PIN2 targeting.

This study found that p21 is much more highly expressed in normal melanocytes compared to melanoma cells, suggesting a potential target for preventing melanoma progression through cell cycle repair processes.

This study identified that downregulation of the gene BcFLA1 decreases root hair length in Brassica carinata under phosphate-deficient conditions, highlighting its role in root hair elongation.

The researchers reported that disrupting the RPGRIP1L gene in mice impaired desmosome function, causing skin blistering, and their findings suggest that PKCβII inhibition could help treat pemphigus.

This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.

This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.

This study suggests that mutations in exon 10 of the POC1A gene may be linked to a distinct clinical condition characterized by extreme insulin resistance and short stature, differing from SOFT syndrome.