John C Achermann

No ORCID on file · 2 papers in corpus · active 2011-2025

Study types

  • article 1
  • review 1

Condition tags

  • endometriosis 1
  • infertility 1
article 2025
A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency
·doi:10.1210/clinem/dgaf124

CONTEXT: Establishing the genetic basis of early-onset primary ovarian insufficiency (EO-POI, <25 years) is important, but defining variant pathogenicity is challenging. OBJECTIVE: We aimed to elucidate the genetic architecture of EO-POI in…

review 2011
Steroidogenic factor-1 (SF-1, NR5A1) and human disease
Molecular and cellular endocrinology ·doi:10.1016/j.mce.2010.11.006

Steroidogenic factor-1 (SF-1, Ad4BP, encoded by NR5A1) is a key regulator of adrenal and reproductive development and function. Based upon the features found in Nr5a1 null mice, initial attempts to identify SF-1 changes in humans focused on…