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Related Concept Videos

Porin Insertion in the Outer Mitochondrial Membrane01:12

Porin Insertion in the Outer Mitochondrial Membrane

Porins are beta-barrel proteins translocated to the mitochondrial outer membrane through the TOM complex into the intermembrane space. Porin precursors bind TIM chaperones within the intermembrane space and are guided to the Sorting and Assembly Machinery complex or SAM complex on the outer mitochondrial membrane.
Three models describe the assembly of porins by the SAM complex and their insertion into the outer membrane. Model 1 suggests that porins are assembled outside the SAM channel as the...
The Pituitary Gland01:17

The Pituitary Gland

The pituitary is a small endocrine organ in the sphenoid bone under the hypothalamus. Primarily, the pituitary in adults has two distinct anatomical and functional regions— the anterior and posterior lobes. During human fetal development, a third pituitary gland region called the pars intermedia atrophies and disappears. However, some of its cells migrate and exist adjacent to the anterior pituitary in adults.
Multi-pass Transmembrane Proteins and β-barrels01:09

Multi-pass Transmembrane Proteins and β-barrels

In multi-pass transmembrane proteins, the polypeptide chain crosses the membrane more than once. The transmembrane polypeptide chain either forms an α-helix or β-strand structure. α-Helix containing multi-pass transmembrane proteins are ubiquitous, whereas β-strand containing ones are mainly found in gram-negative bacteria, mitochondria, and chloroplasts.
α-Helix containing multi-pass transmembrane proteins
Multi-pass transmembrane proteins such as G-protein-linked receptors (GPCRs) and...
Structure of Porins01:21

Structure of Porins

Mitochondria, chloroplasts, and gram-negative bacteria have transmembrane, beta-barrel proteins called porins to mediate the free diffusion of ions and metabolites across the membrane. Mitochondrial porin precursors contain conserved amino acid sequences called beta signals at their C-terminal. Beta signals have a  motif of PoXGXXHyXHy (Po-Polar, X-Any amino acid, G-Glycine, Hy-LargeHydrophobic), which are crucial for precursor recognition to initiate precursor assembly. Beta-barrel precursors...
Fimbriae, Pili, and Axial Filaments01:28

Fimbriae, Pili, and Axial Filaments

Fimbriae and pili are specialized bacterial surface structures that play pivotal roles in adhesion, genetic exchange, and motility. Composed primarily of pilin protein, these hairlike appendages are crucial for bacterial survival and pathogenicity in various environments.Fimbriae: Adhesion and PathogenicityFimbriae are fine, filamentous structures measuring 2–10 nanometers in diameter and are densely distributed on the bacterial cell surface. They facilitate bacterial adhesion to abiotic...
Single-Strand DNA Binding Proteins01:03

Single-Strand DNA Binding Proteins

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Related Experiment Video

Updated: Jul 17, 2026

Arthroscopic Excision of Posterior Cruciate Ligament Cysts Using a Double Posteromedial Approach
05:44

Arthroscopic Excision of Posterior Cruciate Ligament Cysts Using a Double Posteromedial Approach

Published on: October 20, 2023

Posterior helical pits.

Trine E Prescott1, Raoul C M Hennekam

  • 1Department of Medical Genetics, Rikshospitalet-Radiumhospitalet Medical Centre, Forskningsveien 2b, 0027 Oslo, Norway. trine.prescott@rikshospitalet.no

European Journal of Medical Genetics
|January 16, 2007
PubMed
Summary

Posterior helical pits are rare but can indicate genetic syndromes. Recognizing these pits aids in diagnosing conditions like Beckwith-Wiedemann syndrome.

Area of Science:

  • Medical Genetics
  • Dermatology
  • Pediatrics

Background:

  • Posterior helical pits are an infrequently observed external ear malformation.
  • While they can present as an isolated autosomal dominant trait, their occurrence in the general population is uncommon.

Purpose of the Study:

  • To investigate the association of posterior helical pits with specific genetic syndromes.
  • To highlight the diagnostic utility of posterior helical pits.

Main Methods:

  • Observational study.
  • Clinical case review.
  • Syndrome identification.

Main Results:

  • Posterior helical pits were identified as a feature in three distinct genetic syndromes: Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, and Rubinstein-Taybi syndrome.

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Structure of HIV-1 Capsid Assemblies by Cryo-electron Microscopy and Iterative Helical Real-space Reconstruction
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Structure of HIV-1 Capsid Assemblies by Cryo-electron Microscopy and Iterative Helical Real-space Reconstruction

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Last Updated: Jul 17, 2026

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Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
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Structure of HIV-1 Capsid Assemblies by Cryo-electron Microscopy and Iterative Helical Real-space Reconstruction

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  • The study observed posterior helical pits in these specific syndromes, suggesting a potential diagnostic link.

    • Conclusions:

    • Posterior helical pits, though uncommon, serve as a significant diagnostic indicator when present.
    • Their association with Beckwith-Wiedemann, Simpson-Golabi-Behmel, and Rubinstein-Taybi syndromes underscores their value in clinical diagnosis.