Publications by authors named "M C Hoenig"

Renal physiology is considered one of the most challenging medical disciplines to understand and to teach. Eight academic nephrologists have come together to produce a podcast devoted to helping learners at any level improve their understanding of this difficult topic. Using Dr Burton D.

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Potassium Homeostasis.

Adv Kidney Dis Health

November 2024

Potassium homeostasis is essential for maintaining the normal resting membrane potential of excitable cells. Yet daily dietary potassium typically far exceeds total extracellular potassium, thus the body has elegant strategies to shift potassium into cells promptly after a meal and then the kidneys efficiently excrete potassium. Potassium excretion depends on adequate kidney perfusion and filtration, sodium delivery to the distal nephron and aldosterone action on the distal nephron.

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Leukocyte Adhesion Deficiency Type I (LAD I) is a rare inborn error of immunity caused by mutations in the ITGB2 gene coding for β2-integrin CD18 on the surface of leukocytes. Affected patients display severe clinical manifestations with life threatening infections and inflammatory complications due to an impaired ability of leukocytes to transmigrate from the blood vessel to the tissue. Here we describe the generation of eight induced pluripotent stem cell lines from two patients with LAD I and mutations in the ITGB2 gene.

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Article Synopsis
  • The study examines a female carrier of a genetic mutation in the IKBKG gene, which is linked to conditions like ectodermal dysplasia and ectodermal dysplasia and immunodeficiency in males and incontinentia pigmenti (IP) in females, leading to a condition called NEMO-NDAS, characterized by autoinflammatory symptoms.
  • Researchers used various techniques, including RT-PCR and nanopore sequencing, to analyze gene expression and protein levels in the patient and her mother compared to healthy controls.
  • Findings revealed that the patient exhibited autoinflammatory symptoms without immunodeficiency, attributed to a non-skewed X-inactivation, alternative splicing of the IKBKG gene, and increased levels of
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