4.7 Review

Concepts in Multifactorial Etiology of Developmental Disorders: Gene-Gene and Gene-Environment Interactions in Holoprosencephaly

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly

Ichrak Drissi et al.

Summary: Holoprosencephaly is a developmental disorder with phenotypical variabilities primarily caused by mutations in the SHH pathway genes. Variants in the PLCH1 gene may also contribute to the disorder, possibly through protein mislocalisation leading to pathogenicity.

JOURNAL OF MEDICAL GENETICS (2022)

Article Developmental Biology

Δ9-Tetrahydrocannabinol inhibits Hedgehog-dependent patterning during development

Hsiao-Fan Lo et al.

Summary: Developmental disorders are often the result of an interaction between genetic and environmental risk factors. THC, a cannabinoid compound, has been found to induce developmental defects in mice with specific genetic mutations related to the Hedgehog signaling pathway. The study suggests that THC could act as a conditional teratogen, with important implications for public health.

DEVELOPMENT (2021)

Review Environmental Sciences

Examining the developmental toxicity of piperonyl butoxide as a Sonic hedgehog pathway inhibitor

Kenneth S. Rivera-Gonzalez et al.

Summary: Piperonyl butoxide (PBO) is a widely used semisynthetic chemical in pesticide formulations, acting as a pesticide synergist and inhibitor of Sonic hedgehog signaling. Animal studies suggest that prenatal exposure to PBO can lead to craniofacial malformations or neurodevelopmental abnormalities, with human studies linking PBO exposure to neurodevelopmental deficits. Further research is needed to better understand the developmental toxicity and potential contribution of PBO to human birth defects.

CHEMOSPHERE (2021)

Article Developmental Biology

A life-table analysis of the intrauterine fate of malformed human embryos and fetuses

Kohei Shiota

Summary: The study found that abnormalities frequently occur in early embryonic development, leading to many malformed embryos/fetuses dying in utero and ending in spontaneous abortion. Natural prenatal screening of abnormal conceptuses likely contributes to reducing the birth of malformed infants.

BIRTH DEFECTS RESEARCH (2021)

Article Genetics & Heredity

Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome

Shruti Pande et al.

Summary: This study includes reports of four affected individuals from two unrelated families with hedgehog acyl-transferase (HHAT)-related multiple congenital anomaly syndrome, demonstrating clinical variability in phenotype. Additionally, the study reports a family with three affected conceptuses, including two abortuses and one living proband, and identified a biallelic in-frame deletion in exon 5 of HHAT through exome sequencing, highlighting the phenotype and allelic heterogeneity of the condition.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

Review Genetics & Heredity

Gene Environment Interactions in the Etiology of Neural Tube Defects

Richard H. Finnell et al.

Summary: Structural congenital malformations are the leading cause of infant mortality in the United States, with close to 3% of newborns presenting with birth defects. Neural tube defects (NTDs) are among the most prevalent human birth defects, with spinal bifida and encephalocele as major classifications.

FRONTIERS IN GENETICS (2021)

Review Cardiac & Cardiovascular Systems

Genetic and Cellular Interaction During Cardiovascular Development Implicated in Congenital Heart Diseases

Kazuki Kodo et al.

Summary: Congenital heart disease (CHD) is a common life-threatening anomaly caused by defects in cardiovascular development, with genetic and environmental factors playing a key role. Understanding the genes involved is crucial for uncovering the genomic architecture of CHD.

FRONTIERS IN CARDIOVASCULAR MEDICINE (2021)

Article Developmental Biology

Identification of disease-relevant modulators of the SHH pathway in the developing brain

Nora Mecklenburg et al.

Summary: By establishing novel congenic mouse models, Pttg1 and Ulk4 were identified as candidate modifiers that positively regulate the SHH signaling pathway, making it more resilient to disturbances. Furthermore, ULK4 and PTTG1 were characterized as previously unidentified components of primary cilia, contributing to a better understanding of the modulation of genetic disturbances affecting the penetrance of brain and heart disorders in humans.

DEVELOPMENT (2021)

Article Developmental Biology

Identifying environmental risk factors and gene-environment interactions in holoprosencephaly

Yonit A. Addissie et al.

Summary: This study evaluated the impact of non-genetic factors on the risk, severity, and gene-environment interactions of holoprosencephaly. Modifiable risk factors such as maternal pregestational diabetes, higher alcohol consumption, and exposure to consumer products were found to be associated with holoprosencephaly. Additionally, significant gene-environment interactions, such as consumption of cheese and espresso drinks, were identified.

BIRTH DEFECTS RESEARCH (2021)

Review Biochemistry & Molecular Biology

Mechanistic Insights into the Generation and Transduction of Hedgehog Signaling

Xiaofeng Qi et al.

TRENDS IN BIOCHEMICAL SCIENCES (2020)

Review Developmental Biology

Signaling in the primary cilium through the lens of the Hedgehog pathway

Eduardo D. Gigante et al.

WILEY INTERDISCIPLINARY REVIEWS-DEVELOPMENTAL BIOLOGY (2020)

Article Substance Abuse

Multifactorial Genetic and Environmental Hedgehog Pathway Disruption Sensitizes Embryos to Alcohol-Induced Craniofacial Defects

Joshua L. Everson et al.

ALCOHOL-CLINICAL AND EXPERIMENTAL RESEARCH (2020)

Article Substance Abuse

Patterns of Prenatal Alcohol Exposure and Alcohol-Related Dysmorphic Features

Gretchen Bandoli et al.

ALCOHOL-CLINICAL AND EXPERIMENTAL RESEARCH (2020)

Article Genetics & Heredity

Ocular measurements in fetal alcohol spectrum disorders

Diego A. Gomez et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)

Review Developmental Biology

Gene-environment interactions: aligning birth defects research with complex etiology

Tyler G. Beames et al.

DEVELOPMENT (2020)

Article Environmental Sciences

Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study

Yonit A. Addissie et al.

ENVIRONMENTAL HEALTH (2020)

Article Developmental Biology

The hedgehog co-receptor BOC differentially regulates SHH signaling during craniofacial development

Martha L. Echevarria-Andino et al.

DEVELOPMENT (2020)

Review Cell Biology

Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors

Marcella Martinelli et al.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2020)

Article Biochemistry & Molecular Biology

Cholesterol access in cellular membranes controls Hedgehog signaling

Arun Radhakrishnan et al.

NATURE CHEMICAL BIOLOGY (2020)

Article Endocrinology & Metabolism

Disrupted Hypothalamo-Pituitary Axis in Association With Reduced SHH Underlies the Pathogenesis of NOTCH-Deficiency

Houda Hamdi-Roze et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Article Genetics & Heredity

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly

Paul Kruszka et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

Editorial Material Anatomy & Morphology

A forebrain undivided: Unleashing model organisms to solve the mysteries of holoprosencephaly

Yevgenya Grinblat et al.

DEVELOPMENTAL DYNAMICS (2019)

Article Clinical Neurology

Cohesin complex-associated holoprosencephaly

Paul Kruszka et al.

Article Genetics & Heredity

Novel heterozygous variants in KMT2D associated with holoprosencephaly

Cedrik Tekendo-Ngongang et al.

CLINICAL GENETICS (2019)

Article Biochemistry & Molecular Biology

Structures of vertebrate Patched and Smoothened reveal intimate links between cholesterol and Hedgehog signalling

Christiane Kowatsch et al.

CURRENT OPINION IN STRUCTURAL BIOLOGY (2019)

Review Developmental Biology

Establishing neuronal diversity in the spinal cord: a time and a place

Andreas Sagner et al.

DEVELOPMENT (2019)

Article Multidisciplinary Sciences

Cannabinoids Exacerbate Alcohol Teratogenesis by a CB1-Hedgehog Interaction

Eric W. Fish et al.

SCIENTIFIC REPORTS (2019)

Article Pediatrics

SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly

Bethany Stokes et al.

CONGENITAL ANOMALIES (2018)

Article Substance Abuse

Combined Face-Brain Morphology and Associated Neurocognitive Correlates in Fetal Alcohol Spectrum Disorders

Michael Suttie et al.

ALCOHOLISM-CLINICAL AND EXPERIMENTAL RESEARCH (2018)

Review Genetics & Heredity

Modeling the complex etiology of holoprosencephaly in mice

Mingi Hong et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2018)

Review Genetics & Heredity

Recent advances in understanding inheritance of holoprosencephaly

Christele Dubourg et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2018)

Review Genetics & Heredity

Holoprosencephaly in the genomics era

Erich Roessler et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2018)

Review Genetics & Heredity

Syndromes associated with holoprosencephaly

Paul Kruszka et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2018)

Review Genetics & Heredity

Nongenetic risk factors for holoprosencephaly: An updated review of the epidemiologic literature

April D. Summers et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2018)

Article Anatomy & Morphology

Clinical and Demographic Evaluation of a Holoprosencephaly Cohort From the Kyoto Collection of Human Embryos

Yu Abe et al.

ANATOMICAL RECORD-ADVANCES IN INTEGRATIVE ANATOMY AND EVOLUTIONARY BIOLOGY (2018)

Article Genetics & Heredity

BOC is a modifier gene in holoprosencephaly

Mingi Hong et al.

HUMAN MUTATION (2017)

Article Genetics & Heredity

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

Christele Dubourg et al.

HUMAN MUTATION (2016)

Article Biochemistry & Molecular Biology

Regulation of the oncoprotein Smoothened by small molecules

Hayley J. Sharpe et al.

NATURE CHEMICAL BIOLOGY (2015)

Article Multidisciplinary Sciences

Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings

Charlotte Mouden et al.

PLOS ONE (2015)

Article Multidisciplinary Sciences

Endocannabinoids are conserved inhibitors of the Hedgehog pathway

Helena Khaliullina et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)

Article Genetics & Heredity

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly

Naseebullah Kakar et al.

HUMAN GENETICS (2015)

Article Genetics & Heredity

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

Benjamin D. Solomon et al.

JOURNAL OF MEDICAL GENETICS (2012)

Article Cell Biology

Boc modifies the holoprosencephaly spectrum of Cdo mutant mice

Wei Zhang et al.

DISEASE MODELS & MECHANISMS (2011)

Article Biochemistry & Molecular Biology

NOTCH, a new signaling pathway implicated in holoprosencephaly

Valerie Dupe et al.

HUMAN MOLECULAR GENETICS (2011)

Article Genetics & Heredity

Risk Factors for Non-Syndromic Holoprosencephaly in the National Birth Defects Prevention Study

Eric A. Miller et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2010)

Article Genetics & Heredity

Early Pathogenesis of Holoprosencephaly

Kohei Shiota et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2010)

Article Substance Abuse

Ethanol Teratogenesis in Five Inbred Strains of Mice

Chris Downing et al.

ALCOHOLISM-CLINICAL AND EXPERIMENTAL RESEARCH (2009)

Article Developmental Biology

Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance systems:: Searching for population variations

Emanuele Leoncini et al.

BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY (2008)

Article Developmental Biology

Fetal ethanol exposure activates protein kinase A and impairs Shh expression in prechordal mesendoderm cells in the pathogenesis of holoprosencephaly

Kazushi Aoto et al.

BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY (2008)

Review Genetics & Heredity

The ups and downs of holoprosencephaly:: dorsal versus ventral patterning forces

M. Fernandes et al.

CLINICAL GENETICS (2008)

Article Genetics & Heredity

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

Yongsu Jeong et al.

NATURE GENETICS (2008)

Review Clinical Neurology

The morphogen signaling network in forebrain development and holoprosencephaly

Edwin S. Monuki

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2007)