Daisy's Doula Job
Year: 2026
Type: article
Abstract: Daisy's Doula Job Overview: This case study explores the molecular basis of microcephaly in a genetically rare condition called Microcephaly-Capillary Malformation Syndrome. With only 18 documented cases worldwide, this disorder is diagnosed by genetic testing. The case starts with a doula who encounters a client with a newborn diagnosed with this disorder. Driven by a desire to support the family, Daisy-the doula delves into the structural investigation, to understand how this syndrome results in smaller head sizes and the occurrence of seizures. Molecules explored: The primary molecule studied in this case is a deubiquitinating enzyme called STAM-binding protein (STAMBP), also known as AMSH (associated molecule with the Src homology 3 domain of signal transducing adaptor molecule.) The catalytic domain of human AMSH and yeast STAMBP (referred as Sst2) is explored.
Source: QUBES
DOI: 10.25334/g7k6-v828
Author: Capece, Rashmi
Institution: Berea College
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7081661320
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