Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.

This source reports that a comprehensive review of LSS gene variant phenotypes enhances understanding of congenital hypotrichosis 14 and could guide more precise genetic counseling and future research into disease mechanisms and potential therapies.

This study found that latanoprost may be effective for treating eyelash alopecia areata, achieving cosmetically acceptable regrowth in 45% of patients.

In this study, researchers identified the lncRNA MSTRG.14227.1 in cashmere goats and found it inhibits the morphogenesis of secondary hair follicles by interacting with the chi-miR-433/ADAMTS3 signaling axis, affecting cashmere yield and quality.

This report details two cases of Lichen spinulosus in the submental area, treated effectively and safely with topical tacalcitol cream.

This study reports that patients with specific MFN2 mutations, including p.Arg707Trp, exhibit significant upper body fat overgrowth with suppressed leptin production, suggesting tissue-selective mitochondrial dysfunction and potential therapeutic targets.

This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.

This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.

This study found that latanoprost and bimatoprost, when applied cutaneously to the eyelids, did not induce appreciable eyelash regrowth in patients with alopecia areata over 16 weeks.

This study reported that the absence of Lsh in skin led to significant epidermal hyperplasia and altered gene expression, suggesting its crucial role in regulating epidermal proliferation, differentiation, and wound healing.

This study details the characteristics of lipedematous alopecia and lipedematous scalp, two rare scalp conditions, suggesting they may represent different stages of the same disorder, with lipedematous scalp lacking the hair loss seen in lipedematous alopecia.

This paper reports a single case of lichenoid cutaneous sarcoidosis that was unresponsive to standard treatments but showed marked improvement with the administration of oral tranilast.

This study found that cystatin M/E strongly inhibits human cathepsin V and cathepsin L via distinct non-overlapping sites, suggesting an important role in human epidermal differentiation and hair follicle morphogenesis.

This study found that introducing rat ornithine transcarbamylase gene into spf-ash mice improved liver and intestinal enzyme activity and normalized some metabolic indicators.

This study identified the TALE homeodomain transcription factor Meis2 as a crucial regulator for the maturation and end-organ innervation of certain mechanoreceptors in mice, with its absence leading to altered sensory neuron structure and impaired touch sensitivity.

This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.

This case report describes a 2-year-old girl with loose anagen syndrome type B, confirmed by painless trichoscopic examination, with no signs in her identical twin sister.

This study found a significant relationship between lash ptosis severity and marginal reflex distance, levator function, and double fold presence in Asian patients, which may inform surgical planning for upper eyelid procedures.

In this study, total Sry transcript expression in various rat tissues was linked to Acsl3 expression, suggesting that Sry may play a role in regulating fatty acid metabolism.

This study identified gene sets associated with Tourette Syndrome, implicating Ligand-gated Ion Channel Signaling, Lymphocytic, and Cell Adhesion and Trans-synaptic Signaling processes in the disorder's neurobiology.

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

This review discusses recent improvements in frontalis suspension for congenital ptosis surgery, highlighting that autologous fascia lata is the preferred sling material due to its lower complication rate and enhanced long-term outcomes.

In this study, the researchers identified LHX2 as a specific marker for hair follicle placodes, differentiating them from eccrine sweat gland placodes through double immunofluorescence staining.

This study found that specific genetic variations in the IRF2BP2 gene influence fleece structure in sheep, with one variant completely determining coat type and another significantly modifying fiber characteristics, providing valuable insights for improving fleece quality through selective breeding.

This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.

This study identified differentially expressed mRNAs and lncRNAs in Hu sheep hair follicles, suggesting certain genes and pathways are involved in the development of wool curvature patterns.

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 TLR2 and its ligand CEP are crucial for maintaining hair follicle health and stimulating hair growth, with deficiencies observed in aging and obesity potentially reducing regeneration.

This study found that the lncRNA018392, responsive to melatonin, accelerates cell proliferation in cashmere goats by recruiting the transcription factor SPI1 to upregulate the nearby gene CSF1R, which may explain the molecular mechanisms of cashmere growth.