List of works by Patricia K. Donahoe

A large-scale analysis of tissue-specific pathology and gene expression of human disease genes and complexes

scholarly article

A pediatric surgeon retools in genetics and genomics to study congenital diaphragmatic hernia

scientific article published on February 2009

AAV9 delivering a modified human Mullerian inhibiting substance as a gene therapy in patient-derived xenografts of ovarian cancer

scientific article

AMH/MIS as a contraceptive that protects the ovarian reserve during chemotherapy

scientific article

Adult mouse myometrial label-retaining cells divide in response to gonadotropin stimulation

scientific article

Anti-Müllerian Hormone Signaling Regulates Epithelial Plasticity and Chemoresistance in Lung Cancer.

scientific article published on 06 July 2016

Antimullerian hormone and impending menopause in late reproductive age: the Study of Women's Health Across the Nation

journal article published in 2020

CD44 Splice Variant v8-10 as a Marker of Serous Ovarian Cancer Prognosis.

scientific article

Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 36-2004. A 23-day-old infant with hypospadias and failure to thrive

scientific article published on 01 November 2004

Cell migration and activated PI3K/AKT-directed elongation in the developing rat Müllerian duct

scientific article published on 5 November 2008

Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH

scientific article

Chick pulmonary Wnt5a directs airway and vascular tubulogenesis

scientific article published on 27 February 2008

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

scientific article (publication date: 8 May 2011)

Conditional deletion of beta-catenin in the mesenchyme of the developing mouse uterus results in a switch to adipogenesis in the myometrium

scientific article published on 27 October 2005

Congenital adrenal hyperplasia: surgical considerations required to repair a 46,XX patient raised as a boy.

scientific article published in August 2003

Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics

scientific article published on May 2007

Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes.

scientific article

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.

scientific article

De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia.

scientific article published in July 2016

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders

scientific article published on 10 December 2018

Detection of large-scale variation in the human genome

scientific article (publication date: September 2004)

Development of a sexually differentiated behavior and its underlying CNS arousal functions

scientific article published on January 2007

Development of an efficiently cleaved, bioactive, highly pure FLAG-tagged recombinant human Mullerian Inhibiting Substance

scientific article published on 13 September 2009

Dissecting spatio-temporal protein networks driving human heart development and related disorders

scientific article

Distribution of ERK1/2 and ERK3 during normal rat fetal lung development

scientific article published on 22 December 2005

Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy

scientific article

Endometrial cancer is a receptor-mediated target for Mullerian Inhibiting Substance

scientific article

Enhanced purification and production of Müllerian inhibiting substance for therapeutic applications.

scientific article published on December 2003

Erratum to: Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation.

scientific article published on September 2016

Expression analysis and evolutionary conservation of the mouse germ cell-specific D6Mm5e gene

scientific article

Expression of Müllerian inhibiting substance type II receptor and antiproliferative effects of MIS on human cervical cancer

scientific article published on 14 February 2012

Feedback inhibition of steroidogenic acute regulatory protein expression in vitro and in vivo by androgens.

scientific article published on 20 November 2003

Focal Mullerian duct retention in male mice with constitutively activated beta-catenin expression in the Mullerian duct mesenchyme

scientific article

Follicular fluid anti-Müllerian hormone (AMH) concentrations and outcomes of in vitro fertilization cycles with fresh embryo transfer among women at a fertility center

scientific article published on 06 October 2020

Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development

scientific article

Genetic tools and algorithms for gene discovery in major congenital anomalies

scientific article

Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia.

scientific article published on 16 March 2017

Genomic approaches to surgical diseases: 21st annual Samuel Jason Mixter lecture

scientific article published in April 2006

Genomic structure and expression analysis of the mouse testis-specific ribbon protein (Trib) gene

scientific article published in December 2004

HOXB9, a gene overexpressed in breast cancer, promotes tumorigenicity and lung metastasis

scientific article

Highly purified müllerian inhibiting substance inhibits human ovarian cancer in vivo

scientific article published on 01 August 2002

Human ovarian cancer stem/progenitor cells are stimulated by doxorubicin but inhibited by Mullerian inhibiting substance

scientific article published on 27 January 2012

Identification of characteristic molecular signature of Müllerian inhibiting substance in human HPV-related cervical cancer cells

scientific article published on 13 May 2011

Induction of WNT inhibitory factor 1 expression by Müllerian inhibiting substance/antiMullerian hormone in the Müllerian duct mesenchyme is linked to Müllerian duct regression

scientific article

Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program.

scientific article published in October 2005

Intersex genetic anomalies with malignant potential

scientific article

MEK-1/2 inhibition reduces branching morphogenesis and causes mesenchymal cell apoptosis in fetal rat lungs

scientific article published on 01 March 2002

MIS/AMH in the assessment of cryptorchidism and intersex conditions

scientific article published on December 2003

Management and long-term follow-up of patients with types III and IV laryngotracheoesophageal clefts

scientific article

Measurement of Mullerian inhibiting substance facilitates management of boys with microphallus and cryptorchidism.

scientific article

Meiosis I arrest abnormalities lead to severe oligozoospermia in meiosis 1 arresting protein (M1ap)-deficient mice

scientific journal article

MiR-449a Affects Epithelial Proliferation during the Pseudoglandular and Canalicular Phases of Avian and Mammal Lung Development

scientific article published on 18 February 2016

Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics

scientific article

Mullerian Inhibiting Substance Promotes Interferon γ-induced Gene Expression and Apoptosis in Breast Cancer Cells ⬇️

scientific article published on October 7, 2003

Mullerian Inhibiting Substance enhances subclinical doses of chemotherapeutic agents to inhibit human and mouse ovarian cancer

scholarly article

Mullerian Inhibiting Substance inhibits cervical cancer cell growth via a pathway involving p130 and p107.

scientific article

Mullerian Inhibiting Substance inhibits invasion and migration of epithelial cancer cell lines ⬇️

scientific article published on November 6, 2010

Mullerian inhibiting substance acts as a motor neuron survival factor in vitro

scientific article

Mullerian inhibiting substance induces apoptosis of human endometrial stromal cells in endometriosis.

scientific article

Mullerian inhibiting substance preferentially inhibits stem/progenitors in human ovarian cancer cell lines compared with chemotherapeutics

scientific article

Mullerian inhibiting substance regulates androgen-induced gene expression and growth in prostate cancer cells through a nuclear factor-kappaB-dependent Smad-independent mechanism

scientific article published on June 2006

Mullerian inhibiting substance: an update.

scientific article

Mullerian-inhibiting substance induces Gro-beta expression in breast cancer cells through a nuclear factor-kappaB-dependent and Smad1-dependent mechanism

scientific article published on March 2007

Mullerian-inhibiting substance regulates NF-kappa B signaling in the prostate in vitro and in vivo

scientific article

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

scientific article

Müllerian inhibiting substance blocks the protein kinase A-induced expression of cytochrome p450 17alpha-hydroxylase/C(17-20) lyase mRNA in a mouse Leydig cell line independent of cAMP responsive element binding protein phosphorylation

scientific article published on September 2002

Müllerian inhibiting substance inhibits an ovarian cancer cell line via β-catenin interacting protein deregulation of the Wnt signal pathway

scientific article published on 13 February 2017

Müllerian inhibiting substance is anterogradely transported and does not attenuate avulsion-induced death of hypoglossal motor neurons

scientific article published on 30 December 2010

Müllerian inhibiting substance regulates its receptor/SMAD signaling and causes mesenchymal transition of the coelomic epithelial cells early in Müllerian duct regression

scientific journal article

Müllerian inhibiting substance/anti-Müllerian hormone as a fertility preservation agent

scientific article published on 01 December 2018

Müllerian inhibiting substance/anti-Müllerian hormone: A novel treatment for gynecologic tumors

scientific article

Müllerian inhibiting substance/anti-Müllerian hormone: a potential therapeutic agent for human ovarian and other cancers

scientific article published on March 2010

Müllerian inhibiting substance: an instructive developmental hormone with diagnostic and possible therapeutic applications

scientific article

Müllerian-Inhibiting Substance/Anti-Müllerian Hormone as a Predictor of Preterm Birth in Polycystic Ovary Syndrome

scientific article published on 01 November 2018

Müllerian-inhibiting substance inhibits rat Leydig cell regeneration after ethylene dimethanesulphonate ablation

scientific article published on 29 October 2003

Neoadjuvant Treatment With Müllerian-Inhibiting Substance Synchronizes Follicles and Enhances Superovulation Yield

scientific article published on 22 July 2019

New approaches for high-yield purification of Müllerian inhibiting substance improve its bioactivity

scientific article published on 01 January 2002

Normal ovarian surface epithelial label-retaining cells exhibit stem/progenitor cell characteristics

scholarly article

Ovarian cancer side population defines cells with stem cell-like characteristics and Mullerian Inhibiting Substance responsiveness

scientific article

Pathogenesis and Treatment of Disorders of Sexual Development

article

Persistent Mullerian duct syndrome caused by both a 27-bp deletion and a novel splice mutation in the MIS type II receptor gene.

scientific article

Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies

scientific article

Proteolytic processing of mullerian inhibiting substance produces a transforming growth factor-beta-like fragment

scientific article published on 01 December 1988

Quantification of Müllerian Inhibiting Substance/Anti-Müllerian Hormone polypeptide by isotope dilution mass spectrometry

scientific article published on 06 May 2018

Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene

scientific article published on 20 September 2021

Recombinant human Mullerian inhibiting substance inhibits long-term growth of MIS type II receptor-directed transgenic mouse ovarian cancers in vivo.

scientific article published in March 2006

Retinoic acid-mediated differentiation protects against nitrofen-induced apoptosis.

scientific article

Sex determination and differentiation

scientific article (publication date: 22 January 2004)

Sex differentiation in mouse and man and subsequent development of the female reproductive organs

scientific article published on 22 October 2010

Sexual dimorphism of G-protein subunit Gng13 expression in the cortical region of the developing mouse ovary.

scientific article published in July 2007

Single-cell sequencing of neonatal uterus reveals an Misr2+ endometrial progenitor indispensable for fertility

scientific article published on 24 June 2019

Somatic stem cells of the ovary and their relationship to human ovarian cancers

scientific article published on 9 July 2010

Steroidogenic activities in MA-10 Leydig cells are differentially altered by cAMP and Müllerian inhibiting substance

scientific article

Sustained inquiry: in the clinic and at the bench

scientific article

Systematic analysis of copy number variation associated with congenital diaphragmatic hernia.

scientific article

The Role of Müllerian Inhibiting Substance in the Evaluation of Phenotypic Female Patients with Mild Degrees of Virilization

scientific article published on 01 February 2003

The immunophilin FKBP12: a molecular guardian of the TGF-beta family type I receptors

scientific article published on January 2004

The mandate for innovation in pediatric surgery; creating the environment for success, parity, and excellence

scientific article published on 01 January 2008

Towards international standardization of immunoassays for Müllerian inhibiting substance/anti-Müllerian hormone

scientific article published on 05 September 2018

Transcriptome analysis reveals that Müllerian inhibiting substance regulates signaling pathways that contribute to endometrial carcinogenesis.

scientific article

Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation.

scientific article

Uterine leiomyomas exhibit fewer stem/progenitor cell characteristics when compared with corresponding normal myometrium

scientific article published on 5 October 2009

c-Jun N-terminal kinase inhibitor II (SP600125) activates Mullerian inhibiting substance type II receptor-mediated signal transduction

scientific article

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