# PATHOPHYSIOLOGY OF HUMAN FIBRILLAR COLLAGEN TYPES

> **NIH NIH R01** · MOUNT SINAI SCHOOL OF MEDICINE OF CUNY · 1991 · $260,037

## Abstract

The mechanical properties of developing and mature organ systems are
primarily determined by the deposition of fibrillar collagens in the
extracellular matrix.  It follows that structural defects in these
macromolecules cause dominantly inherited conditions that adversely affect
the integrity of bodily organs.  In addition to their supportive function,
collagens also play a dynamic role in a number of developmental programs
and physiological processes, such as tissue remodeling and wound healing.
Deregulated collagen biosynthesis is the hallmark of several pathological
conditions, including fibrotic, inflammatory and arthritic diseases.  It is
the long-term goal of this application to elucidate the mechanisms
underlying collagen pathophysiology.  Toward this end, two major research
themes are proposed.

The first will explore the phenotypic consequences of collagen mutations in
human conditions and in transgenic mice.  The second will decipher the
molecular circuitries that require collagen biosynthesis.

Specifically, we will characterize type II collagen mutations in
chondrodysplastic patients to confirm and extend the genetic and clinical
understanding of this collagenopathy.  We will utilize the transgenic mouse
model to establish the function and pathogenesis of minor fibrillar
collagen types.  We will employ transfection experiments and DNA:protein
binding assays to identify cis-acting regulatory elements that control the
expression of collagen genes.  Finally, we will clone the genes encoding
the trans-acting factors that regulate collagen expression.

The thrust of this work is to achieve a better understanding of connective
tissue pathology as it relates to the function and biosynthesis of
fibrillar collagen types.

## Key facts

- **NIH application ID:** 3158680
- **Project number:** 2R01AR038648-06
- **Recipient organization:** MOUNT SINAI SCHOOL OF MEDICINE OF CUNY
- **Principal Investigator:** Francesco B Ramirez
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1991
- **Award amount:** $260,037
- **Award type:** 2
- **Project period:** 1989-07-01 → 1996-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/3158680

## Citation

> US National Institutes of Health, RePORTER application 3158680, PATHOPHYSIOLOGY OF HUMAN FIBRILLAR COLLAGEN TYPES (2R01AR038648-06). Retrieved via MORVS 2026-10-24 from https://api.morvs.ai/grant/nih/3158680. Licensed CC0.

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