4.5 Review

Research progress of the Fanconi anemia pathway and premature ovarian insufficiency

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Article Biochemistry & Molecular Biology

DNA repair protein FANCD2 has both ubiquitination- dependent and ubiquitination-independent functions during germ cell development

Simin Zhao et al.

Summary: When DNA interstrand crosslink lesions occur, a core complex of Fanconi anemia proteins promotes the ubiquitination of FANCD2 and FANCI, which recruit downstream factors to repair the lesion. FANCD2 maintains genome stability through both its ubiquitination-dependent and ubiquitination-independent functions. This study analyzed germ cell development in Fancd2 KO and ubiquitination-deficient mutant mice, and found that the ubiquitination-dependent and ubiquitination-independent functions of FANCD2 were required for different aspects of germ cell development.

JOURNAL OF BIOLOGICAL CHEMISTRY (2023)

Article Biochemistry & Molecular Biology

Landscape of pathogenic mutations in premature ovarian insufficiency

Hanni Ke et al.

Summary: Whole-exome sequencing in a cohort of 1,030 patients with POI identified new likely pathogenic variants and revealed different genetic architectures between primary and secondary amenorrhea. This study expands our understanding of the genetic landscape underlying POI and provides insights that have the potential to improve diagnostic genetic screenings.

NATURE MEDICINE (2023)

Article Biochemistry & Molecular Biology

The FANCC–FANCE–FANCF complex is evolutionarily conserved and regulates meiotic recombination

Dipesh Kumar Singh et al.

NUCLEIC ACIDS RESEARCH (2023)

Article Developmental Biology

Histological and transcriptomic analysis of Fance-deficient PGCs reveal the possible mechanisms of their depletion

Suye Suye et al.

Summary: Fanconi anemia leads to subfertility and germ cell deficiency in women. We conducted histological and RNA-seq analysis to explore the possible mechanisms of progressive depletion of Fance-deficient primordial germ cells.

REPRODUCTION (2023)

Article Biochemistry & Molecular Biology

SCAI promotes error-free repair of DNA interstrand crosslinks via the Fanconi anemia pathway

Lisa Schubert et al.

Summary: This study reveals an essential role of SCAI in ensuring error-free ICL repair upon activation of the FA pathway. SCAI forms a complex with Pol zeta and localizes to ICLs during DNA replication. In the absence of SCAI, HR-mediated ICL repair is defective, resulting in deletions and radial chromosomes.

EMBO REPORTS (2022)

Review Obstetrics & Gynecology

The neglected members of the family: non-BRCA mutations in the Fanconi anemia/BRCA pathway and reproduction

Valeria Stella Vanni et al.

Summary: Biallelic FA mutations can cause premature ovarian insufficiency in women and primary non-obstructive azoospermia in men. Hypogonadism in FA patients is mainly associated with a defect in primordial germ cell proliferation. The prevalence and mechanisms of occult FA mutations in infertility and recurrent miscarriage need further exploration through state-of-the-art genetic sequencing methods.

HUMAN REPRODUCTION UPDATE (2022)

Review Biochemistry & Molecular Biology

Homologous Recombination Deficiencies and Hereditary Tumors

Hideki Yamamoto et al.

Summary: Homologous recombination (HR) is a crucial process for repairing DNA double-strand breaks and is associated with inherited susceptibility to specific types of cancers. Variants in different genes within the HR pathway have varying effects, but the protein products of these genes are essential for maintaining a high-fidelity DNA repair system by HR.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

Article Genetics & Heredity

Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency

Ayberk Turkyilmaz et al.

Summary: This study aimed to reveal the genetic etiology in patients with Premature Ovarian Insufficiency (POI). Through various analyses including karyotype, SNP array, and whole-exome sequencing, rare novel variants associated with POI were identified, contributing to the mutation spectrum and highlighting the importance of genetic counseling and fertility planning for these patients.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2022)

Article Reproductive Biology

Fancb deficiency causes premature ovarian insufficiency in mice†

Changhuo Cen et al.

Summary: The Fancb gene plays a crucial role in female germ cell development, and its deletion leads to significant reduction in fertility and infertility. Additionally, the study also found that there is no synergistic effect between Fancb and Fancl genes in regulating germ cell development.

BIOLOGY OF REPRODUCTION (2022)

Article Biochemistry & Molecular Biology

Abnormal migration behavior linked to Rac1 signaling contributes to primordial germ cell exhaustion in Fanconi anemia pathway-deficient Fancg-/- embryos

Amandine Jarysta et al.

Summary: Fanconi anemia is a rare genetic disorder that can lead to a decrease in germ cells, with the Fancg gene playing a crucial role in the development of primordial germ cells during fetal development, causing a reduction in PGC number and abnormalities in cell migration.

HUMAN MOLECULAR GENETICS (2022)

Article Multidisciplinary Sciences

Transcription-replication conflicts in primordial germ cells necessitate the Fanconi anemia pathway to safeguard genome stability

Yajuan Yang et al.

Summary: This study reveals that mouse PGCs experience a high frequency of transcription-replication conflicts, leading to replication stress and DNA damage. The FA pathway is found to play a crucial role in PGC proliferation, and disabling this pathway results in severe cell loss and sterility.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2022)

Review Oncology

Homologous Recombination Deficiency in Ovarian, Breast, Colorectal, Pancreatic, Non-Small Cell Lung and Prostate Cancers, and the Mechanisms of Resistance to PARP Inhibitors

Negesse Mekonnen et al.

Summary: This article discusses the mechanisms of homologous recombination deficiency (HRD) and the therapeutic effects and limitations of PARP inhibitors (PARPIs). It also summarizes the prevalence of HRD caused by gene mutations, loss of heterozygosity, and promoter hypermethylation in various cancers.

FRONTIERS IN ONCOLOGY (2022)

Article Developmental Biology

The reduction of oocytes and disruption of the meiotic prophase I in Fanconi anemia E-deficient mice

Huan Yin et al.

Summary: Defects in Fance lead to a progressive reduction of oocytes and disrupt the progression of meiotic prophase I. The potential mechanisms involve DNA damage repair, meiotic crossover, and pluripotency of oocytes.

REPRODUCTION (2022)

Article Cell Biology

CHAMP1 binds to REV7/FANCV and promotes ho-mologous recombination repair

Feng Li et al.

Summary: REV7 is a critical determinant in the choice of DNA repair pathway, and its seatbelt domain binds to various DNA repair proteins. Recent studies have found that CHAMP1 is another binding protein for REV7, and the binding of CHAMP1 to REV7 activates homologous recombination repair. This interaction reduces the level of the Shieldin complex and promotes the resection of double-strand break ends.

CELL REPORTS (2022)

Article Genetics & Heredity

Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait

Sandrine Caburet et al.

Summary: This study reports a novel phenotype of isolated POI with a BRCA2 variant in a consanguineous Turkish family. Functional studies revealed that BRCA2 is expressed in human fetal ovaries and the patient did not exhibit cancer predisposition or FA traits. The findings extend the phenotype of BRCA2 biallelic alterations to fully isolated POI, impacting the management and genetic counseling of POI patients.

JOURNAL OF MEDICAL GENETICS (2021)

Article Biochemistry & Molecular Biology

A heterozygous hypomorphic mutation ofFancacauses impaired follicle development and subfertility in female mice

Yuncheng Pan et al.

Summary: The study established a mouse model with a heterozygous deletion mutation in the FANCA gene, showing that this hypomorphic gene mutation can reduce fertility in mice and lead to a gradual decrease in the number of follicles with aging.

MOLECULAR GENETICS AND GENOMICS (2021)

Review Biochemistry & Molecular Biology

Inhibiting homologous recombination by targeting RAD51 protein

A. Demeyer et al.

Summary: Homologous recombination (HR) plays a crucial role in repairing DNA double-strand breaks and regulating HR is essential for maintaining genomic stability. Over-activation of HR in many forms of cancer leads to increased tumor resistance to DNA-damaging treatments. RAD51, the core protein of HR, is often over-expressed in cancers and targeting RAD51 directly can sensitize cancer cells to existing therapies.

BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCER (2021)

Review Endocrinology & Metabolism

Current Understanding of the Etiology, Symptomatology, and Treatment Options in Premature Ovarian Insufficiency (POI)

Bunpei Ishizuka

Summary: POI affects at least 1% of women and can have lifelong health problems and psychological stress. Hormone replacement therapy is recommended to alleviate symptoms and prevent complications. Further research is needed to understand the genetic background and improve infertility treatment for POI patients.

FRONTIERS IN ENDOCRINOLOGY (2021)

Review Cell Biology

Meiotic Recombination Defects and Premature Ovarian Insufficiency

Chengzi Huang et al.

Summary: POI is the early depletion of ovarian function before 40 years of age due to various causes, including genetic factors and unknown reasons. Advances in next-generation sequencing have expanded the genetic spectrum of POI, particularly in identifying genes related to meiosis and DNA repair. Understanding the genetic architecture of POI can help predict risks, protect ovarian function, and intervene early for affected women.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)

Review Genetics & Heredity

Regulation of the Fanconi Anemia DNA Repair Pathway by Phosphorylation and Monoubiquitination

Masamichi Ishiai

Summary: The Fanconi anemia (FA) DNA repair pathway is activated through monoubiquitination of FANCD2 and its binding partner FANCI, regulated by the ATR kinase. This process serves as a good example of ATR's contribution to genome stability.
Article Medicine, Research & Experimental

lncRNA DDGC participates in premature ovarian insufficiency through regulating RAD51 and WT1

Duan Li et al.

Summary: The study identified a minimally expressed lncRNA DDGC in granulosa cells (GCs) from patients with biochemical premature ovarian insufficiency (bPOI), and found that DDGC regulates RAD51 and WT1 proteins to affect DNA damage repair, cell differentiation, and etoposide-induced DNA damage and apoptosis, providing new insights into the role of lncRNAs in the pathogenesis of POI.

MOLECULAR THERAPY-NUCLEIC ACIDS (2021)

Review Biochemistry & Molecular Biology

Genetics of Azoospermia

Francesca Cioppi et al.

Summary: Azoospermia can be caused by various genetic factors, with different diagnostic yields in different etiological categories. Whole-Exome Sequencing has led to the discovery of numerous potential candidate genes for Non-Obstructive Azoospermia, which could significantly impact future gene panel-based screenings and patient management. Additionally, approximately 37% of candidate genes are shared in male and female gonadal failure, suggesting the importance of extending genetic counseling to female family members of NOA patients.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Article Endocrinology & Metabolism

Ovarian Reserve Markers in Premature Ovarian Insufficiency: Within Different Clinical Stages and Different Etiologies

Xue Jiao et al.

Summary: Ovarian reserve indicators deteriorate with the progression of ovarian insufficiency, with an increase in FSH and LH but a decrease in AMH, inhibin B, AFC, E-2 and T. AMH has the highest predictive value for POI, and the combination of AMH and AFC is promising for early prediction. Significant differences exist in hormone status among women with different etiologies of POI, with genetic POI showing the worst hormone status.

FRONTIERS IN ENDOCRINOLOGY (2021)

Article Biochemical Research Methods

Quantitative Proteomics Reveals a Novel Role of the E3 Ubiquitin-Protein Ligase FANCL in the Activation of the Innate Immune Response through Regulation of TBK1 Phosphorylation during Peste des Petits Ruminants Virus Infection

Shuying Chen et al.

Summary: PPRV infection causes immunosuppression in the host, but the mechanisms of how the host counteracts this immunosuppression remain largely unknown. High-throughput proteomic analysis revealed that inhibiting the innate immune response promoted PPRV replication in goat cells, while the host protein FANCL may inhibit PPRV infection by enhancing IFN expression.

JOURNAL OF PROTEOME RESEARCH (2021)

Review Cell Biology

REV7 directs DNA repair pathway choice

Connor S. Clairmont et al.

Summary: REV7 is a small multifunctional protein involved in multiple DNA repair pathways, particularly translesion DNA synthesis and double-strand break repair. Recent studies have revealed REV7's role in DSB repair and the discovery of a new DNA repair complex called Shieldin. The importance of REV7's HORMA domain and its regulators, TRIP13 and p31, in DNA repair have been highlighted.

TRENDS IN CELL BIOLOGY (2021)

Review Andrology

The formation and repair of DNA double-strand breaks in mammalian meiosis

Wei Qu et al.

Summary: Programmed DNA double-strand breaks (DSBs) are essential for meiosis in mammals, with abnormal repair leading to infertility. Recombination of DSBs occurs as crossovers and noncrossovers, with crossovers playing a critical role in correct chromosome separation. Mutations in genes related to DSB formation and repair can result in infertility, affecting sperm production in men and ovarian function in women.

ASIAN JOURNAL OF ANDROLOGY (2021)

Article Genetics & Heredity

FANCL gene mutations in premature ovarian insufficiency

Yajuan Yang et al.

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Structural basis of the fanconi anemia-associated mutations within the FANCA and FANCG complex

Eunyoung Jeong et al.

NUCLEIC ACIDS RESEARCH (2020)

Article Genetics & Heredity

Drosophila Xrcc2 regulates DNA double-strand repair in somatic cells

Fabienne E. Bayer et al.

DNA REPAIR (2020)

Article Cell Biology

E3 ligase RFWD3 is a novel modulator of stalled fork stability in BRCA2-deficient cells

Haohui Duan et al.

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XPF-ERCC1: Linchpin of DNA crosslink repair

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Fanconi Anemia Pathway: Mechanisms of Breast Cancer Predisposition Development and Potential Therapeutic Targets

Can-Bin Fang et al.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2020)

Article Endocrinology & Metabolism

Variants in Homologous Recombination Genes EXO1 and RAD51 Related with Premature Ovarian Insufficiency

Wei Luo et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Article Developmental Biology

FANCD2 is required for the repression of germline transposable elements

Yan Nie et al.

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DNA Damaged Induced Cell Death in Oocytes

Jakob Gebel et al.

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Review Genetics & Heredity

Chromosome Instability in Fanconi Anemia: From Breaks to Phenotypic Consequences

Benilde Garcia-de-Teresa et al.

Article Genetics & Heredity

Impact of BRCA1 and BRCA2 mutations on ovarian reserve and fertility preservation outcomes in young women with breast cancer

Eleonora Porcu et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2020)

Review Genetics & Heredity

The Fanconi Anemia Pathway and Fertility

Vanessa Tsui et al.

TRENDS IN GENETICS (2019)

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Premature ovarian insufficiency and autoimmune diseases

Noam Domniz et al.

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Severe Fanconi Anemia phenotypes in Fancd2 depletion mice

Qiao Yang et al.

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A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report

Soheila Zareifar et al.

BMC MEDICAL GENETICS (2019)

Article Cell Biology

BRCA2 deficiency is a potential driver for human primary ovarian insufficiency

Yilong Miao et al.

CELL DEATH & DISEASE (2019)

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DNA requirement in FANCD2 deubiquitination by USP1-UAF1-RAD51AP1 in the Fanconi anemia DNA damage response

Fengshan Liang et al.

NATURE COMMUNICATIONS (2019)

Article Genetics & Heredity

Rare variants in FANCA induce premature ovarian insufficiency

Xi Yang et al.

HUMAN GENETICS (2019)

Article Multidisciplinary Sciences

Structure of the Fanconi anaemia monoubiquitin ligase complex

Shabih Shakeel et al.

NATURE (2019)

Letter Medicine, General & Internal

BRCA2 in Ovarian Development and Function

Yingying Qin et al.

NEW ENGLAND JOURNAL OF MEDICINE (2019)

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Arabidopsis thaliana FANCD2 Promotes Meiotic Crossover Formation

Marie-Therese Kurzbauer et al.

PLANT CELL (2018)

Article Genetics & Heredity

XRCC2 mutation causes meiotic arrest, azoospermia and infertility

Yongjia Yang et al.

JOURNAL OF MEDICAL GENETICS (2018)

Article Biochemistry & Molecular Biology

FANCA Promotes DNA Double-Strand Break Repair by Catalyzing Single-Strand Annealing and Strand Exchange

Anaid Benitez et al.

MOLECULAR CELL (2018)

Article Biochemistry & Molecular Biology

Impeding DNA Break Repair Enables Oocyte Quality Control

Huanyu Qiao et al.

MOLECULAR CELL (2018)

Article Medicine, General & Internal

Essential Role of BRCA2 in Ovarian Development and Function

Ariella Weinberg-Shukron et al.

NEW ENGLAND JOURNAL OF MEDICINE (2018)

Review Endocrinology & Metabolism

Molecular Genetics of Premature Ovarian Insufficiency

Xue Jiao et al.

TRENDS IN ENDOCRINOLOGY AND METABOLISM (2018)

Article Multidisciplinary Sciences

PCNA-mediated stabilization of E3 ligase RFWD3 at the replication fork is essential for DNA replication

Yo-Chuen Lin et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)

Review Oncology

Fanconi anaemia and cancer: an intricate relationship

Grzegorz Nalepa et al.

NATURE REVIEWS CANCER (2018)

Article Biochemistry & Molecular Biology

Mutations in MSH5 in primary ovarian insufficiency

Ting Guo et al.

HUMAN MOLECULAR GENETICS (2017)

Review Biochemistry & Molecular Biology

FANCD2 and DNA Damage

Manoj Nepal et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2017)

Article Medicine, Research & Experimental

Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia

Kerstin Knies et al.

JOURNAL OF CLINICAL INVESTIGATION (2017)

Article Biochemistry & Molecular Biology

Mechanism of Ubiquitination and Deubiquitination in the Fanconi Anemia Pathway

Sylvie van Twest et al.

MOLECULAR CELL (2017)

Article Multidisciplinary Sciences

Involvement of FANCD2 in Energy Metabolism via ATP5α

Panneerselvam Jayabal et al.

SCIENTIFIC REPORTS (2017)

Review Oncology

Fanconi Anemia Signaling and Cancer

Manoj Nepal et al.

TRENDS IN CANCER (2017)

Review Biochemistry & Molecular Biology

Mechanisms controlling germline cyst breakdown and primordial follicle formation

Chao Wang et al.

CELLULAR AND MOLECULAR LIFE SCIENCES (2017)

Review Biochemistry & Molecular Biology

Conflict Resolution in the Genome: How Transcription and Replication Make It Work

Stephan Hamperl et al.

Review Biochemistry & Molecular Biology

Cellular response to DNA interstrand crosslinks: the Fanconi anemia pathway

David Lopez-Martinez et al.

CELLULAR AND MOLECULAR LIFE SCIENCES (2016)

Review Biochemistry & Molecular Biology

Interplay between Fanconi anemia and homologous recombination pathways in genome integrity

Johanna Michl et al.

EMBO JOURNAL (2016)

Review Endocrinology & Metabolism

Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum

Elena J. Tucker et al.

ENDOCRINE REVIEWS (2016)

Article Endocrinology & Metabolism

Occult form of premature ovarian insufficiency

I. G. Shestakova et al.

GYNECOLOGICAL ENDOCRINOLOGY (2016)

Article Obstetrics & Gynecology

ESHRE Guideline: management of women with premature ovarian insufficiency

L. Webber et al.

HUMAN REPRODUCTION (2016)

Article Medicine, Research & Experimental

Biallelic inactivation of REV7 is associated with Fanconi anemia

Dominique Bluteau et al.

JOURNAL OF CLINICAL INVESTIGATION (2016)

Review Cell Biology

The Fanconi anaemia pathway: newyplayers and new functions

Raphael Ceccaldi et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2016)

Article Biochemistry & Molecular Biology

FANCI-FANCD2 stabilizes the RAD51-DNA complex by binding RAD51 and protects the 5′-DNA end

Koichi Sato et al.

NUCLEIC ACIDS RESEARCH (2016)

Article Multidisciplinary Sciences

Ubiquitinated Fancd2 recruits Fan1 to stalled replication forks to prevent genome instability

Christophe Lachaud et al.

SCIENCE (2016)

Review Endocrinology & Metabolism

Premature ovarian insufficiency: the context of long-term effects

A. Podfigurna-Stopa et al.

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (2016)

Article Obstetrics & Gynecology

BRCA1 and BRCA2 sequence variations detected with next-generation sequencing in patients with premature ovarian insufficiency

Nafiye Karakas Yilmaz et al.

JOURNAL OF THE TURKISH-GERMAN GYNECOLOGICAL ASSOCIATION (2016)

Article Developmental Biology

Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing

Elena Nicchia et al.

BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY (2015)

Article Biochemistry & Molecular Biology

FANCB is essential in the male germline and regulates H3K9 methylation on the sex chromosomes during meiosis

Yasuko Kato et al.

HUMAN MOLECULAR GENETICS (2015)

Article Genetics & Heredity

Increased DNA damage and repair deficiency in granulosa cells are associated with ovarian aging in rhesus monkey

Dongdong Zhang et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2015)

Article Cell Biology

Lack of Rev7 function results in development of tubulostromal adenomas in mouse ovary

Abdolrahim Abbasi et al.

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2015)

Article Biochemistry & Molecular Biology

The Fanconi Anemia Pathway Maintains Genome Stability by Coordinating Replication and Transcription

Rebekka A. Schwab et al.

MOLECULAR CELL (2015)

Article Biochemistry & Molecular Biology

RFWD3-Dependent Ubiquitination of RPA Regulates Repair at Stalled Replication Forks

Andrew E. H. Elia et al.

MOLECULAR CELL (2015)

Article Multidisciplinary Sciences

A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51

Najim Ameziane et al.

NATURE COMMUNICATIONS (2015)

Article Developmental Biology

Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing

Elena Nicchia et al.

BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY (2015)

Article Oncology

Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype

Sarah L. Sawyer et al.

CANCER DISCOVERY (2015)

Review Genetics & Heredity

Update of the human and mouse Fanconi anemia genes

Hongbin Dong et al.

HUMAN GENOMICS (2015)

Article Obstetrics & Gynecology

BRCA1 germline mutations may be associated with reduced ovarian reserve

Erica T. Wang et al.

FERTILITY AND STERILITY (2014)

Article Biochemistry & Molecular Biology

The Carboxyl Terminus of FANCE Recruits FANCD2 to the Fanconi Anemia (FA) E3 Ligase Complex to Promote the FA DNA Repair Pathway

David Polito et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2014)

Article Endocrinology & Metabolism

Anti-Mullerian Hormone Deficiency in Females With Fanconi Anemia

Martha M. Sklavos et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)

Article Biochemistry & Molecular Biology

The Genetic and Biochemical Basis of FANCD2 Monoubiquitination

Eeson Rajendra et al.

MOLECULAR CELL (2014)

Article Biochemistry & Molecular Biology

XPF-ERCC1 Acts in Unhooking DNA Interstrand Crosslinks in Cooperation with FANCD2 and FANCP/SLX4

Daisy Klein Douwel et al.

MOLECULAR CELL (2014)

Article Biochemistry & Molecular Biology

FANCM-associated proteins MHF1 and MHF2, but not the other Fanconi anemia factors, limit meiotic crossovers

Chloe Girard et al.

NUCLEIC ACIDS RESEARCH (2014)

Article Biochemistry & Molecular Biology

FANCM and FAAP24 Maintain Genome Stability via Cooperative as Well as Unique Functions

Yucai Wang et al.

MOLECULAR CELL (2013)

Article Cell Biology

Advances in Understanding the Complex Mechanisms of DNA Interstrand Cross-Link Repair

Cheryl Clauson et al.

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2013)

Review Biochemistry & Molecular Biology

The Fanconi anemia pathway in replication stress and DNA crosslink repair

Mathew J. K. Jones et al.

CELLULAR AND MOLECULAR LIFE SCIENCES (2012)

Review Cell Biology

Regulation of DNA cross-link repair by the Fanconi anemia/BRCA pathway

Hyungjin Kim et al.

GENES & DEVELOPMENT (2012)

Article Oncology

Fancf-deficient mice are prone to develop ovarian tumours

Sietske T. Bakker et al.

JOURNAL OF PATHOLOGY (2012)

Review Biochemistry & Molecular Biology

Regulation of the ovarian reserve by members of the transforming growth factor beta family

Stephanie A. Pangas

MOLECULAR REPRODUCTION AND DEVELOPMENT (2012)

Article Obstetrics & Gynecology

Meiotic recombination, synapsis, meiotic inactivation and sperm aneuploidy in a chromosome 1 inversion carrier

Gordon Kirkpatrick et al.

REPRODUCTIVE BIOMEDICINE ONLINE (2012)

Article Multidisciplinary Sciences

FANCM Limits Meiotic Crossovers

Wayne Crismani et al.

SCIENCE (2012)

Article Cell Biology

FANCP/SLX4 A Swiss army knife of DNA interstrand crosslink repair

Kelly E. Cybulski et al.

CELL CYCLE (2011)

Review Hematology

Pathophysiology and management of inherited bone marrow failure syndromes

Akiko Shimamura et al.

BLOOD REVIEWS (2010)

Article Genetics & Heredity

The importance of XRCC2 in RAD51-related DNA damage repair

Cathryn E. Tambini et al.

DNA REPAIR (2010)

Article Biochemistry & Molecular Biology

Discovery of a Novel Function for Human Rad51 MAINTENANCE OF THE MITOCHONDRIAL GENOME

Jay M. Sage et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2010)

Article Biochemistry & Molecular Biology

The FANCM/FAAP24 Complex Is Required for the DNA Interstrand Crosslink-Induced Checkpoint Response

Min Huang et al.

MOLECULAR CELL (2010)

Review Endocrinology & Metabolism

Ovarian Aging: Mechanisms and Clinical Consequences

F. J. Broekmans et al.

ENDOCRINE REVIEWS (2009)

Article Biotechnology & Applied Microbiology

Fanconi anemia and its diagnosis

Arleen D. Auerbach

MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS (2009)

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The Fanconi anemia pathway and ubiquitin

Celine Jacquemont et al.

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Gonadotropin and intra-ovarian signals regulating follicle development and atresia: the delicate balance between life and death

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FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway

Chen Ling et al.

EMBO JOURNAL (2007)

Article Multidisciplinary Sciences

Analysis of PALB2/FANCN-associated breast cancer families

Marc Tischkowitz et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)

Article Biochemistry & Molecular Biology

Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM

Alberto Ciccia et al.

MOLECULAR CELL (2007)

Article Biochemistry & Molecular Biology

Insights into Fanconi Anaemia from the structure of human FANCE

Ravi K. Nookala et al.

NUCLEIC ACIDS RESEARCH (2007)

Article Genetics & Heredity

Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome

S. T. Holden et al.

JOURNAL OF MEDICAL GENETICS (2006)

Review Oncology

The Fanconi anemia/BRCA pathway: A coordinator of cross-link repair

Kanchan D. Mirchandani et al.

EXPERIMENTAL CELL RESEARCH (2006)

Article Multidisciplinary Sciences

Human fanconi anemia monoubiquitination pathway promotes homologous DNA repair

K Nakanishi et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)

Article Biochemistry & Molecular Biology

The Fanconi anaemia gene FANCC promotes homologous recombination and error-prone DNA repair

W Niedzwiedz et al.

MOLECULAR CELL (2004)

Article Genetics & Heredity

X-linked inheritance of Fanconi anemia complementation group B

AR Meetei et al.

NATURE GENETICS (2004)

Article Genetics & Heredity

A novel ubiquitin ligase is deficient in Fanconi anemia

AR Meetei et al.

NATURE GENETICS (2003)

Article Cell Biology

Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice

S Houghtaling et al.

GENES & DEVELOPMENT (2003)

Article Multidisciplinary Sciences

Biallelic inactivation of BRCA2 in Fanconi anemia

NG Howlett et al.

SCIENCE (2002)

Article Biochemistry & Molecular Biology

FANCE: the link between Fanconi anaemia complex assembly and activity

P Pace et al.

EMBO JOURNAL (2002)

Article Biochemistry & Molecular Biology

Reduced fertility and hypersensitivity to mitomycin C characterize Fancg/Xrcc9 null mice

M Koomen et al.

HUMAN MOLECULAR GENETICS (2002)

Article Biochemistry & Molecular Biology

Role of BRCA2 in control of the RAD51 recombination and DNA repair protein

AA Davies et al.

MOLECULAR CELL (2001)

Article Genetics & Heredity

Isolation of a cDNA representing the Fanconi anemia complementation group E gene

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AMERICAN JOURNAL OF HUMAN GENETICS (2000)

Article Biochemistry & Molecular Biology

Mice with a targeted disruption of the Fanconi anemia homolog Fanca

NC Cheng et al.

HUMAN MOLECULAR GENETICS (2000)