Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Pleiotropy01:33

Pleiotropy

31.2K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
31.2K
Genetic Lingo01:11

Genetic Lingo

84.7K
Overview
84.7K
Incomplete Dominance01:43

Incomplete Dominance

19.0K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
19.0K
Pedigree Analysis01:35

Pedigree Analysis

78.8K
Overview
78.8K
Sex-linked Disorders01:43

Sex-linked Disorders

94.4K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
94.4K
Alternative RNA Splicing02:18

Alternative RNA Splicing

20.5K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
20.5K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Mitomycin C and vindesine: an ineffective combination chemotherapy in the treatment of malignant pleural mesothelioma.

Tumori·1992
Same author

Neoadjuvant chemotherapy with cisplatin, epirubicin and VP-16 for stage IIIA-IIIB non-small-cell lung cancer: a pilot study.

Tumori·1992
Same author

Supraspinal influences on recurrent inhibition in humans. Paralysis of descending control of Renshaw cells in patients with mental retardation.

Electroencephalography and clinical neurophysiology·1992
Same author

Expression in murine and human neuroblastoma cell lines of VGF, a tissue specific protein.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience·1992
Same author

Calcium entry blockade as a mechanism for chlordimeform-induced inhibition of motor activity in the isolated guinea-pig ileum.

Pharmacology & toxicology·1992
Same author

Energy metabolism of the hypertrophied heart studied by 31P nuclear magnetic resonance.

Cardioscience·1992

Related Experiment Video

Updated: May 2, 2026

A New Technique for Quantitative Analysis of Hair Loss in Mice Using Grayscale Analysis
06:41

A New Technique for Quantitative Analysis of Hair Loss in Mice Using Grayscale Analysis

Published on: March 9, 2015

8.7K

Alopecia in genetic diseases.

S Calvieri1, A Rossi

  • 1Department of Internal Medicine and Medical Specialties, Unit of Dermatology Sapienza University, Rome, Italy - alfredo.rossi@uniroma1.it.

Giornale Italiano Di Dermatologia E Venereologia : Organo Ufficiale, Societa Italiana Di Dermatologia E Sifilografia
|February 26, 2014
PubMed
Summary

Congenital hair shaft abnormalities stem from genetic defects causing chemical and structural changes. These conditions range from mild to severe, sometimes indicating underlying diseases.

More Related Videos

Mechanical and Controlled PRP Injections in Patients Affected by Androgenetic Alopecia
03:22

Mechanical and Controlled PRP Injections in Patients Affected by Androgenetic Alopecia

Published on: January 27, 2018

14.9K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

7.9K

Related Experiment Videos

Last Updated: May 2, 2026

A New Technique for Quantitative Analysis of Hair Loss in Mice Using Grayscale Analysis
06:41

A New Technique for Quantitative Analysis of Hair Loss in Mice Using Grayscale Analysis

Published on: March 9, 2015

8.7K
Mechanical and Controlled PRP Injections in Patients Affected by Androgenetic Alopecia
03:22

Mechanical and Controlled PRP Injections in Patients Affected by Androgenetic Alopecia

Published on: January 27, 2018

14.9K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

7.9K

Area of Science:

  • Genetics
  • Dermatology
  • Biochemistry

Background:

  • Congenital hair shaft abnormalities are genetically determined conditions.
  • They involve chemical, biochemical, and morphological alterations of the hair.
  • These abnormalities can be isolated or part of a larger syndrome.

Purpose of the Study:

  • To classify congenital hair shaft abnormalities.
  • To differentiate between conditions with and without increased hair fragility.

Main Methods:

  • Review of existing literature on congenital hair shaft disorders.
  • Categorization based on hair fragility and clinical presentation.

Main Results:

  • Two main groups identified: increased hair fragility and normal fragility.
  • Examples of fragile hair conditions include Trichorrhexis nodosa congenita and Pili torti.
  • Examples of non-fragile hair conditions include Pili annulati and Uncombable hair syndrome.

Conclusions:

  • Congenital hair shaft abnormalities are diverse, with varying genetic underpinnings.
  • Classification aids in understanding disease transmission, severity, and phenotypic expression.
  • Some abnormalities serve as key indicators of specific diseases.