Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.

This article outlines methods to study the skin and its molecular traits, focusing on interpretation and techniques applicable to mouse models, including diverse assays and approaches like electron microscopy and large-scale lipid analyses.

This study found that biallelic mutations in the TTC7A gene affect lymphocyte and gut epithelial cell function, thereby contributing to the development of inflammatory bowel disease in patients.

This study found that the Plcd3(mNab) mutation in mice worsens the alopecia caused by Plcd1 loss, suggesting synergistic effects between Plcd1 and Plcd3 on hair follicle health.

This study found that different stabilizing mutations in Aux/IAA proteins affect root hair development in Arabidopsis by disrupting the auxin response and suggest a model where the relative abundance of these proteins determines root hair initiation.

In this study, early prenatal treatment with Minoxidil, a lysyl hydroxylase inhibitor, partly improved cardiac outflow tract septation in Tbx1 mutant mice, suggesting that inhibiting collagen cross-linking may mitigate some effects of Tbx1 mutation associated with DiGeorge syndrome.

In this study, researchers explored how hair follicle orientation is affected in the rosette fancy mouse and found that a mutation in the PCP gene Fzd6 caused reversed hair orientations in the posterior region, leading to the formation of unique whorls.

Defective protein folding due to a mutation is key in ANE syndrome.

This case report describes a 4-month-old boy with anhidrotic ectodermal dysplasia and immunodeficiency who showed minimal improvement with initial treatments but significant improvement after an umbilical cord blood transplantation.

This study found that Cutl1 mutant mice experienced retarded lung differentiation and abnormal hair follicle morphogenesis, indicating the vital role of CDP in lung development and hair follicle cell-lineage specification.

This review discusses the mechanisms associated with protoporphyrin IX in living cells and reports no clinical results; the authors emphasize its potential in cancer diagnosis and the risks of toxicity.

This study reports that a new nude allele, nu(StL), encodes a truncated Whn transcription factor affecting T-cell development and keratin gene expression, with notable differences from the original Whn(nu) mutation.

This study found that deleting the ATR gene in adult mice led to rapid onset of age-related traits such as hair graying and osteoporosis through reduced regenerative capacity.

This review summarizes recent advances in Treg cell biology, focusing on Foxp3's role in immune regulation and therapeutic reprogramming for immune dysregulatory disorders, but reports no new clinical results.

This review discusses the formation and structure of the cornified cell envelope in the epidermis, highlighting biochemical pathways and genetic factors, but presents no new experimental results.

The document explains the genetic causes and characteristics of inherited hair disorders.

This review summarizes existing knowledge on the role of FOXN1 as a key regulator of thymic epithelial cell lineage and function, reporting no new experimental results.

This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.

This case report describes a 1-month-old male infant with Netherton syndrome, characterized by severe hypernatremia, skin and scalp issues, highlighting the syndrome's complications, including growth retardation and infection risks in early life.

This research found that the microtubule catastrophe factor KIF18B plays a crucial role in promoting spindle orientation in keratinocytes, linking this process to cell fate decisions during hair follicle morphogenesis.

This review discusses how the nuclear lamina integrates biochemical and mechanical signals to influence gene expression and skin homeostasis, but reports no new clinical results.

Keratinocyte cytokines and genetic variations influence the development of moles and skin pigmentation.

This study found that the restoration of CD103⁺γδ T cells in humans is associated with sustained remission in inflammatory bowel disease, suggesting a conserved role for these cells in limiting disease progression.

This study suggests that melanoma tumor cells exhibit intrinsic plasticity, challenging the applicability of the cancer stem cell model to this malignancy.

This review discusses the role of zebrafish as a model for studying human hereditary pigmentary disorders and reports no new experimental results, emphasizing their genetic similarities and the genetic tools available.

This case report presents the first Russian patient with Meier-Gorlin syndrome 5, expanding clinical understanding through the identification of two novel CDC6 gene variants.

This review discusses the effects of the epidermal growth factor receptor system on skin biology and pathology, relying on animal models to analyze roles in cellular processes, wound healing, and tumorigenesis, but reports no new results.

This review discusses the commonly observed pathological findings in progeroid mouse models and highlights the importance of understanding mouse strain backgrounds and progeria-related phenotypes for accurate pathology data interpretation.

In this review, the authors emphasize that phenotypic heterogeneity in genetic systems and human diseases is influenced by stochastic fluctuation and network topology, proposing that ultrasensitivity and threshold effects explain this variability, which may inform strategies for preventing and treating genetic diseases.

This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.