Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This article reports on a case where a 26-year-old woman with acromegaloidism was found to have X-tetrasomy, suggesting it should be considered in differential diagnoses due to its potential impact on growth-related genes.

This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.

This study identified a new gene in sheep, KRTAP36-2, discovering variants associated with wool yield. Variations in this gene were linked to the efficiency of fleece conversion from greasy to clean, which may enhance wool production.

Male infertility and genitourinary birth defects are often linked to genetic issues.

A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.

This literature review highlights the importance of understanding the mechanisms behind the gradual mosaic loss of the Y chromosome (mLOY) in men, its association with various health conditions like cardiovascular diseases and cancer, and its potential as a marker for age inference.

This case study describes a patient with Turner syndrome who, despite lacking many classic features, presented with multiple autoimmune diseases, suggesting a link between complex X chromosome rearrangements and increased autoimmune risk.

This case report describes an unusual variant of Turner Syndrome in a 20-year-old female that required comprehensive medical and psychological care, including hormonal therapy that resolved symptoms like alopecia.

This study observed that patients with COVID-19 had many conditions and phenotypes that increased post-infection, varying by demographics and infection wave, which could enhance understanding and diagnostics of Long-COVID.

This study found that the transcription factor Lhx2 regulates Sonic Hedgehog signaling in mouse retinal progenitor cells, mainly by controlling the expression of co-receptors essential for effective pathway activation during early retinal neurogenesis.

This study found that in early retinal neurogenesis in mice, the transcription factor Lhx2 regulates Sonic Hedgehog signaling by controlling expression of pathway genes like the co-receptors Gas1 and Cdon.

This study found that the Lim-homeodomain transcription factor Lhx2 regulates Sonic Hedgehog signaling during early retinal neurogenesis in mice by controlling the expression of pathway genes in retinal progenitor cells.

In this study, the researchers observed that higher expression of the Sonic hedgehog gene in cashmere goats' hair follicle cycles is associated with increased cell proliferation and reduced apoptosis, suggesting its role in enhancing cashmere quality.

This study found that overexpression of Hoxc13 in GC13 mouse models affects hair follicle differentiation by interacting with medulla-specific genes, particularly Foxq1, suggesting a regulatory pathway for medulla differentiation.

This study suggests a regulatory model where HOXC13 activates Foxn1, affecting hair and nail differentiation, supported by similarities in Hoxc13(tm1Mrc) and Foxn1(nu) mice phenotypes and gene expression patterns.

This study found that Hopx labels a long-lived progenitor population in hair follicles, which contributes to hair follicle stem cell homeostasis and has an alternative origin from previously thought progenitors.

This study in mice found that overexpressing Sonic Hedgehog in basal cells caused skin anomalies and a lack of certain hair fibers, underscoring its key role in hair follicle development.

This review provides an overview of Hox genes, focusing on their evolutionary history, genomic organization, and roles in development, but reports no new study results.

This study observed that gene expression differences in Rex rabbits with varying wool densities suggest the involvement of specific genes and signaling pathways, including Shh and Eph, in hair follicle development.

This study characterized the Hoxc-13 gene from sheep wool follicles, noting its potential autoregulatory role and potential influence on skin function beyond hair keratin regulation.

This study shows that differences in Hoxc gene expression in hair follicle mesenchyme along the body axis contribute to regional variations in mammalian hair growth.

This review discusses the expression patterns and biochemical roles of Msx and Dlx genes during development but does not present new research findings.

This study found that mutations affecting hair keratin expression on Chromosome 15 in mice may cause altered hair and skin features similar to other known mouse mutations.

The researchers reported that introduction of SOX9 in ischemic heart tissues is linked to cardiac fibrosis, marking it as a potential target for future therapeutic strategies.

This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.

This study found that higher expression of the Hoxc13 gene in specific areas of hair follicles is associated with longer wool length in Gansu alpine fine-wool sheep.

This study found that SHJH hr mice, with a Hairless gene mutation, exhibit accelerated skin aging potentially due to poor antioxidative protection, highlighting the Hr gene's role in skin aging.

This study found that Msx2-deficient mice exhibit skull and bone formation defects similar to those seen in human MSX2-related conditions, highlighting the gene's importance in skeletal and organ development.

This study found that Hoxc13 mutations in mice cause defects in hair, nail, and tongue structures, with the most noticeable issue being brittle hair leading to alopecia.

In this study, transgenic mice expressing Msx-2 developed flaky skin with hyperproliferation and misalignment in epidermal cells, suggesting Msx-2 plays a role in skin and appendage growth control.