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Related Concept Videos

The Ras Gene02:38

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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.
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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.
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Ras and Rho are small monomeric GTPases that act downstream of receptor tyrosine kinase (RTK) and regulate various cellular processes. These GTPases switch between active and inactive states by binding to guanine nucleotides.
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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.
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Updated: Aug 30, 2025

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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[GATA2 gene mutations: 3 cases].

N Perrard1, M R Pokeerbux2, B Quesnel3

  • 1U1286 - INFINITE - Institute for translational research in inflammation, university Lille, 59000 Lille, France; Inserm, 59000 Lille, France; Département de médecine interne et immunologie clinique, CHU Lille, 59000 Lille, France; Centre de référence des maladies autoimmunes et autoinflammatoires rares (CERAINO), 59000 Lille, France.

La Revue De Medecine Interne
|August 30, 2022
PubMed
Summary
This summary is machine-generated.

Germline mutations in the guanine-adenine-thymine-adenine binding protein 2 (GATA2) gene cause a range of serious conditions, including Emberger syndrome and MonoMAC syndrome. Early diagnosis and multidisciplinary management are crucial for these complex GATA2 deficiency syndromes.

Keywords:
Acute myeloid leukemiaDéficit immunitaire primitifEmberger syndromeGATA2Leucémie aiguë myéloïdeMonoMACMonoMacPrimary immunodeficiencySyndrome d’Emberger

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Area of Science:

  • Genetics
  • Hematology
  • Immunology

Background:

  • Germline mutations in the guanine-adenine-thymine-adenine binding protein 2 (GATA2) gene are pathogenic and can occur sporadically.
  • GATA2 mutations are associated with a wide spectrum of clinical manifestations, some severe and rapidly fatal.

Observation:

  • Three cases are presented: a 19-year-old with monocytopenia and lymphedema (Emberger syndrome), a 28-year-old with disseminated Mycobacterium kansasii infection (MonoMAC syndrome), and a 30-year-old with pancytopenia (myelodysplastic syndromes/acute myeloid leukemia).
  • Each patient exhibited distinct clinical presentations indicative of GATA2 deficiency.

Findings:

  • GATA2 deficiency presents with a complex and heterogeneous array of hematological, dermatological, infectious, pulmonary, ENT, and oncological symptoms.
  • The reported cases highlight the diverse clinical spectrum associated with GATA2 gene mutations.

Implications:

  • GATA2 gene mutations pose significant diagnostic and therapeutic challenges, necessitating a multidisciplinary approach for effective patient management.
  • Understanding the full clinical spectrum and adhering to updated management recommendations are vital for addressing GATA2 deficiency.