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

The Ras Gene02:38

The Ras Gene

The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a superfamily...
Mutations01:39

Mutations

Overview
Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Alternative RNA Splicing02:18

Alternative RNA Splicing

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...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Sex-linked Disorders01:43

Sex-linked Disorders

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.

You might also read

Related Articles

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

Sort by
Same author

Elacestrant in ESR1-mutant, endocrine-responsive metastatic breast cancer: should health authorities consider post hoc data to inform priority access?

ESMO open·2024
Same author

Clinical, radiological, and molecular diagnosis of congenital pituitary diseases causing short stature.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2023
Same author

Penetrating cardiac trauma caused by a nail-gun: A case report and narrative review.

Trauma case reports·2022
Same author

Traumatic tricuspid valve regurgitation: A two case series.

Trauma case reports·2022
Same author

Non-motor symptom burden is strongly correlated to motor complications in patients with Parkinson's disease.

European journal of neurology·2020
Same author

Systemic high-dose intravenous methotrexate in patients with central nervous system metastatic breast cancer.

BMC cancer·2019

Related Experiment Video

Updated: Jun 13, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

FGFR1 mutations in Kallmann syndrome.

C Villanueva, N de Roux

    Frontiers of Hormone Research
    |April 15, 2010
    PubMed
    Summary

    Kallmann syndrome (KS) is a genetic disorder causing GnRH deficiency and anosmia. Mutations in the FGFR1 gene (KAL2) are linked to KS, affecting GnRH neuron migration and causing varied clinical features.

    Area of Science:

    • Genetics
    • Endocrinology
    • Developmental Biology

    Background:

    • Kallmann syndrome (KS) is a complex genetic disorder characterized by hypogonadotropic hypogonadism and absent sense of smell (anosmia).
    • KS exhibits diverse inheritance patterns, including X-linked, autosomal recessive, and autosomal dominant forms, with KAL1 and KAL2 (FGFR1) identified as key genes.
    • Fibroblast growth factor receptor 1 (FGFR1) mutations, initially identified in familial autosomal dominant KS, are now recognized as a significant genetic cause.

    Purpose of the Study:

    • To explore the genetic basis of Kallmann syndrome, focusing on the role of the FGFR1 gene.
    • To investigate the genotype-phenotype correlations associated with FGFR1 mutations in KS patients.
    • To elucidate the contribution of FGFR1 and its ligand FGF8 to the pathogenesis of GnRH deficiency.

    More Related Videos

    Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
    12:49

    Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders

    Published on: September 4, 2011

    Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
    05:48

    Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein

    Published on: March 16, 2022

    Related Experiment Videos

    Last Updated: Jun 13, 2026

    A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
    08:22

    A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

    Published on: September 16, 2019

    Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
    12:49

    Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders

    Published on: September 4, 2011

    Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
    05:48

    Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein

    Published on: March 16, 2022

    Main Methods:

    • Genetic analysis of patients with Kallmann syndrome to identify mutations in candidate genes.
    • Genotype-phenotype correlation studies to link specific mutations to clinical manifestations.
    • Review of existing literature and recent findings, including animal models and FGF8 mutations.

    Main Results:

    • Mutations in FGFR1 (KAL2) are a frequent cause of KS, particularly in familial cases with autosomal dominant inheritance.
    • FGFR1 mutations are associated with specific KS features, including anosmia, loss of nasal cartilage, hearing impairment, and limb anomalies.
    • FGFR1 plays a crucial role in the development of the olfactory bulb and the migration of GnRH neurons, explaining the core features of KS.

    Conclusions:

    • FGFR1 mutations are a significant genetic factor in Kallmann syndrome, contributing to GnRH deficiency and anosmia.
    • The specific clinical presentation in KS patients with FGFR1 mutations can vary, indicating complex genotype-phenotype relationships.
    • Further research into FGFR1 and its signaling pathways, including FGF8, is essential for understanding the broader mechanisms of GnRH deficiency.