Samantha A. Brugmann

Targeting SUFU-mediated GLI activity alleviates ciliopathic phenotypes

This study shows that modulating SUFU-GLI interactions rescues ciliopathic phenotypes in mice by restoring GLI transcriptional activity without requiring ciliary processing.

Cell fate specification during respiratory development requires ARID1A-containing canonical BAF complex activity

The paper shows that the ARID1A-containing BAF complex is essential for lung development, proximal-distal axis specification, and cell fate acquisition during respiratory development.

A dual role for GLI3 signaling in neural crest development

The paper identifies two distinct temporal roles for GLI3 in neural crest development: one in early specification and another in cranial NCC differentiation.

Genetic Analysis and Functional Assessment of a TGFBR2 Variant in Micrognathia and Cleft Palate

The paper identifies a TGFBR2 variant in patients with micrognathia and cleft palate, tests its causality in mice, and finds it does not cause craniofacial anomalies, highlighting challenges in translating genetic findings to models.

The ciliary protein C2cd3 is required for mandibular musculoskeletal tissue patterning

The paper identifies C2cd3 as essential for mandibular musculoskeletal tissue patterning by showing its role in defining epithelial signal centers in CNCC-derived mesenchyme.

ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial to mesenchymal transition in cranial neural crest lineage commitment

The paper shows ARID1A-haploinsufficiency impairs EMT in CNCC specification by disrupting ARID1A-BAF binding at EMT enhancers, which affects ZIC2 occupancy and leads to aberrant neuronal gene activation.

A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development.

The paper identifies a critical noncoding superenhancer region essential for regulating anterior HOXA genes in craniofacial development, showing its deletion causes severe developmental defects in mice and a human patient.

The widely used Ucp1-CreEvdr transgene elicits complex developmental and metabolic phenotypes.

The paper analyzes the Ucp1-CreEvdr transgenic mouse line and finds it causes complex developmental and metabolic issues independent of its intended genetic manipulation.

Pharmacological intervention of the FGF-PTH axis as a potential therapeutic for ciliopathies

The paper identifies disruptions in the FGF23-PTH axis in a ciliopathy model and shows that combining a FGFR inhibitor with a PTH agonist rescues micrognathia.

Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders

This study shows that failure to switch from ARID1A-BAF to ARID1B-BAF in patient-derived cells impairs neural crest formation in Coffin-Siris syndrome.

Ciliopathic micrognathia is caused by aberrant skeletal differentiation and remodeling

This study identifies aberrant skeletal differentiation and remodeling as the cause of ciliopathic micrognathia using an avian model.

Gli3 utilizes Hand2 to synergistically regulate tissue-specific transcriptional networks

This study shows Gli3 and Hand2 work together to control gene expression in craniofacial development without relying on a graded Hh signal.