Related Experiment Video

Updated: Mar 7, 2026

SorLA and CLC:CLF-1-dependent Downregulation of CNTFRα as Demonstrated by Western Blotting, Inhibition of Lysosomal Enzymes, and Immunocytochemistry
10:16

SorLA and CLC:CLF-1-dependent Downregulation of CNTFRα as Demonstrated by Western Blotting, Inhibition of Lysosomal Enzymes, and Immunocytochemistry

Published on: January 6, 2017

7.7K

Variable expression of Gorlin syndrome may reflect complexity of the signalling pathway

Sonja Levanat1, Mirjana Končar Mubrin2, Ivana Crnić1

  • 1Department of Molecular Medicine, Ruđer Bošković Institute, Bijenička c. 54, 10000 Zagreb, Croatia, , , , , , HR.

Pflugers Archiv : European Journal of Physiology
|February 9, 2017
PubMed

Insights

Nevoid Basal Cell Carcinoma Syndrome (NBCCS), or Gorlin syndrome, involves cancer predisposition due to PTCH gene alterations. This paper examines atypical cases to better understand NBCCS manifestations and genetic damage.

Area of Science:

  • Genetics
  • Developmental Biology
  • Oncology

Background:

  • Nevoid Basal Cell Carcinoma Syndrome (NBCCS), also known as Gorlin syndrome, is an autosomal dominant disorder.
  • It is characterized by a high predisposition to cancer and multiple developmental abnormalities.
  • Alterations in the PTCH gene, crucial for the Shh signaling pathway, are linked to NBCCS, but pathway complexities and chromosomal instability's role remain unclear.

Purpose of the Study:

  • To enhance the understanding of NBCCS.
  • To investigate the mechanisms underlying variable phenotype expression in Gorlin syndrome patients.
  • To explore the role of chromosomal instability in NBCCS.

Main Methods:

  • Presentation and analysis of several atypical cases of NBCCS.
  • Review of genetic alterations in the PTCH gene.
  • Examination of Shh signaling pathway involvement.

Main Results:

  • The presented atypical cases highlight the diverse clinical manifestations of NBCCS.
  • These cases underscore the importance of considering all syndrome features and associated genetic damage.
  • Further investigation is needed to clarify the role of chromosomal instability.

Conclusions:

  • Understanding the complexities of the Shh pathway and PTCH gene alterations is crucial for managing Gorlin syndrome.
  • Detailed analysis of atypical NBCCS cases contributes to a more comprehensive understanding of the syndrome.
  • Further research is warranted to elucidate the complete genetic and molecular basis of NBCCS phenotypes.
Keywords:
Gorlin syndromeKey words: PTCHNBCCStumor

More Related Videos

Modified Yeast-Two-Hybrid System to Identify Proteins Interacting with the Growth Factor Progranulin07:56

Modified Yeast-Two-Hybrid System to Identify Proteins Interacting with the Growth Factor Progranulin

Published on: January 17, 2012

29.3K
Quantitative PCR-based Assay to Measure Sonic Hedgehog Signaling in Cellular Model of Ciliogenesis07:26

Quantitative PCR-based Assay to Measure Sonic Hedgehog Signaling in Cellular Model of Ciliogenesis

Published on: January 31, 2025

1.1K

Related Concept Videos

Notch Signaling Pathway03:14

Notch Signaling Pathway

The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
6.8K
TGF - β Signaling Pathway01:16

TGF - β Signaling Pathway

The TGF-β signaling pathway regulates cell growth, differentiation, adhesion, motility, and development. TGF-β ligands that induce TGF-β signaling are synthesized in their latent form. Several proteases or cell surface receptors such as integrins act upon the latent form, releasing the active ligand. There are three types of mammalian TGF-βs: (TGF-β1, TGF-β2, and TGF-β3) that bind as homodimers or heterodimers to TGF-β receptors. The TGF-β receptors...
10.8K
Amplifying Signals via Enzymatic Cascade01:22

Amplifying Signals via Enzymatic Cascade

When a ligand binds to a cell-surface receptor, the receptor's intracellular domain changes shape, which may either activate its enzyme function or allow its binding to other molecules. The initial signal is amplified by most signal transduction pathways. This means that a single ligand molecule can activate multiple molecules of a downstream target. Proteins that relay a signal are most commonly phosphorylated at one or more sites, activating or inactivating the protein. Kinases catalyze...
18.9K
Hedgehog Signaling Pathway02:33

Hedgehog Signaling Pathway

The Hedgehog gene (Hh) was first discovered due to its control of the growth of disorganized, hair-like bristles phenotype in Drosophila, much like hedgehog spines. Hh plays a crucial role in the development of organs and the maintenance of homeostasis in both invertebrates and vertebrates. However, while Drosophila has only one Hh protein, mammals have multiple functional Hedgehog proteins - Sonic (Shh), Desert (Dhh), and Indian Hedgehog (Ihh). All of these homologous proteins have adapted to...
10.3K
Interactions Between Signaling Pathways01:19

Interactions Between Signaling Pathways

Signaling cascades usually lack linearity. Multiple pathways interact and regulate one another, allowing cells to integrate and respond to diverse environmental stimuli.
Convergence and divergence, and cross-talk between signaling pathways
Two distinct signaling pathways can converge on a single functional unit, which may either be a single protein or a complex of proteins. The response is either functionally distinct or synergistic between the two pathways but different from the response...
7.6K
The JAK-STAT Signaling Pathway01:20

The JAK-STAT Signaling Pathway

Several cytokine receptors have tightly bound Janus kinase or JAK proteins attached at their cytosolic tail. Small signaling molecules such as cytokines, growth hormones, or prolactins bind to the cytokine receptors and initiate their dimerization. The dimerization brings the cytosolic JAKs together that trans-phosphorylate and activates each other. The activated JAKs now phosphorylate cytosolic tails of the cytokine receptors, which serve as binding sites for adaptor proteins such as  SH2...
13.5K