Electron Microscopic and Immunohistochemical Findings of the Epidermal Basement Membrane in Two Families with Nail-patella Syndrome.

08:00 EDT 12th September 2019 | BioPortfolio

Summary of "Electron Microscopic and Immunohistochemical Findings of the Epidermal Basement Membrane in Two Families with Nail-patella Syndrome."

Nail-patella syndrome is an autosomal dominant disorder characterized by nail dysplasia and skeletal anomaly. Some patients have been shown to have ultrastructural abnormalities of the glomerular basement membrane that result in nephrosis. However, little has been reported on the epidermal basement membrane in this condition. This paper reports 2 families with nail-patella syndrome. Direct sequencing analysis of LMX1B revealed that family 1 and family 2 were heterozygous for the mutations c.140-1G>C and c.326+1G>C, respectively. To evaluate the epidermal basement membrane zone, ultrastructural and immunohistochemical analyses were performed using skin specimens obtained from the dorsal thumb. Electron microscopy showed intact hemidesmosomes, lamina lucida, lamina densa, and anchoring fibrils. Immunofluorescence studies with antibodies against components of the epidermal basement membrane zone revealed a normal expression pattern among the components, including type IV collagen. These data suggest that nail dysplasia in patients with nail-patella syndrome is not caused by structural abnormalities of the epidermal basement membrane.


Journal Details

This article was published in the following journal.

Name: Acta dermato-venereologica
ISSN: 1651-2057


DeepDyve research library

PubMed Articles [15032 Associated PubMed Articles listed on BioPortfolio]

Exfoliation fibrils within the basement membrane of anterior lens capsule: a transmission electron microscopy study.

The aim of the present study was to demonstrate novel findings recognized within the basement membrane of the anterior lens capsules (aLCs) in exfoliation syndrome, in a transmission electron microsco...

Coordinated Modulation of Corneal Scarring by the Epithelial Basement Membrane and Descemet's Basement Membrane.

To provide an overview of the importance of the coordinated role of the epithelial basement membrane (EBM) and Descemet's basement membrane (DBM) in modulating scarring (fibrosis) in the cornea after ...

Slit/Robo signals prevent spinal motor neuron emigration by organizing the spinal cord basement membrane.

The developing spinal cord builds a boundary between the CNS and the periphery, in the form of a basement membrane. The spinal cord basement membrane is a barrier that retains CNS neuron cell bodies, ...

Ectodermal Dysplasia: Association with Anti-Basement Membrane Autoantibodies.

Ectodermal dysplasia (ED) is a group of several genetic conditions with absence or dysgenesis of at least two ectodermal derivatives: teeth, skin and its appendages including hair, nails, eccrine and ...

Delta-like ligand 4/DLL4 regulates the capillarization of liver sinusoidal endothelial cell and liver fibrogenesis.

Liver sinusoidal endothelial cells (LSECs) undergo capillarization, or loss of fenestrae, and produce basement membrane during liver fibrotic progression. DLL4, a ligand of the Notch signaling pathway...

Clinical Trials [4002 Associated Clinical Trials listed on BioPortfolio]

Dermacell ADM Without Basement Membrane

DermACELL acellular dermal matrix (D-ADM) is the trade name of LifeNet Health's acellular dermal matrix (ADM). LifeNet Health will remove the basement membrane from the D-ADM and this prod...

Metalloproteinases and Recurrent Corneal Erosion Syndrome

Recurrent corneal erosion (RCE) syndrome can be observed either in the context of a dystrophy of the basement membrane or following corneal trauma. This syndrome is characterized by recurr...

An Open-Label Phase II Study to Evaluate the Efficacy and Safety of IdeS in Anti-GBM Disease (GOOD-IDES)

This study will evaluate the safety and tolerability of IdeS in patients with severe anti-GBM (Glomerular Basement Membrane) disease receiving standard care consisting of pulse-methylpredn...

Internal Limiting Membrane and Macular Hole

Observational study of Internal Limiting Membrane peeled in macular Hole surgery and studied by Transmission electronic Microscopy (TEM) and Optical Coherence Tomography (OCT) findings in ...

Optimizing the Ocular Surface Prior to Cataract Surgery

Prospective study to evaluate the efficacy of using self-retained cryopreserved amniotic membrane after debridement in treating Epithelial Base Membrane Dystrophy (EBMD) to optimize the oc...

Medical and Biotech [MESH] Definitions

A type of glomerulonephritis that is characterized by the accumulation of immune deposits (COMPLEMENT MEMBRANE ATTACK COMPLEX) on the outer aspect of the GLOMERULAR BASEMENT MEMBRANE. It progresses from subepithelial dense deposits, to basement membrane reaction and eventual thickening of the basement membrane.

Morphological findings useful in differentiation and classification of results in CYTODIAGNOSIS and related techniques.

The technique of using a cryostat or freezing microtome, in which the temperature is regulated to -20 degrees Celsius, to cut ultrathin frozen sections for microscopic (usually, electron microscopic) examination.

Large, noncollagenous glycoprotein with antigenic properties. It is localized in the basement membrane lamina lucida and functions to bind epithelial cells to the basement membrane. Evidence suggests that the protein plays a role in tumor invasion.

A non-fibrillar collagen involved in anchoring the epidermal BASEMENT MEMBRANE to underlying tissue. It is a homotrimer comprised of C-terminal and N-terminal globular domains connected by a central triple-helical region.

Quick Search

DeepDyve research library

Relevant Topics

DNA sequencing
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...

Acne Dermatology Eczema Psoriasis Wound Care Dermatology is the medical specialty concerned with the diagnosis and treatment of skin disorders (Oxford Medical Dictionary). As well as studying how the skin works, dermatology covers...

An antibody is a protein produced by the body's immune system when it detects harmful substances, called antigens. Examples of antigens include microorganisms (such as bacteria, fungi, parasites, and viruses) and chemicals. Antibodies may be produc...

Searches Linking to this Article