• DE
  • EN
  • Institute
    • People
    • Open Positions
    • Quality Management
    • Contact & Location
  • Genetic Counselling
    • Frequently Asked Questions
    • Interdisciplinary Clinics
    • Appointments
  • Genetic Testing
    • Molecular Genetics
    • Molecular Cytogenetics
    • Cytogenetics
    • Forms & Sample Submission
  • Research
    • Main Research Areas
    • MM Team
    • Molecular Developmental Genetics
    • Research Groups
    • Publications
  • Rare Diseases
    • Center for Progeroid Syndromes
    • Center for Undiagnosed Congenital Syndromes and Clinical Genome Medicine
  • Teaching & Training
  • News
  • Gene of the Month
  • Privacy
  • DE
  • EN
Institut für Humangenetik der Universitätsmedizin Göttingen Institut für Humangenetik der Universitätsmedizin Göttingen
  • Institute
    • People
    • Open Positions
    • Quality Management
    • Contact & Location
  • Genetic Counselling
    • Frequently Asked Questions
    • Interdisciplinary Clinics
    • Appointments
  • Genetic Testing
    • Molecular Genetics
    • Molecular Cytogenetics
    • Cytogenetics
    • Forms & Sample Submission
  • Research
    • Main Research Areas
    • MM Team
    • Molecular Developmental Genetics
    • Research Groups
    • Publications
  • Rare Diseases
    • Center for Progeroid Syndromes
    • Center for Undiagnosed Congenital Syndromes and Clinical Genome Medicine
  • Teaching & Training
  • News
  • Gene of the Month
  • Privacy

Archives

Author Archive for: "KB"
Home » Archiv für KB » Page 4
By KB
In Gene of the Month
Posted 3. August 2023

Gene of the Month – July: RHNO1

RHINO, the protein encoded by the RHNO1 gene, has a previously unknown function in repairing DNA damage. A study recently published in Science demonstrates that RHINO plays a crucial role in a [...]

READ MORE
By KB
In Gene of the Month
Posted 3. July 2023

Gene of the Month – June: ERI1

Biallelic missense variants found in the ERI1 gene result in disrupted ribosome biogenesis, causing a specific and previously unreported type of bone and cartilage disorder. This discovery was [...]

READ MORE
By KB
In Gene of the Month
Posted 2. June 2023

Gene of the Month – May: FMR1

A potential approach to correct the FMR1 gene defect underlying fragile X syndrome (FXS) relies on the body’s own DNA repair mechanisms. This is described by researchers in the journal Cell. FXS [...]

READ MORE
By KB
In Gene of the Month
Posted 4. May 2023

Gene of the Month – April: POLR1A

Heterozygous variants in POLR1A resulting in a reduced protein function underlie a more variable phenotype than previously known. A study published in the American Journal of Human Genetics [...]

READ MORE
By KB
In Gene of the Month
Posted 3. April 2023

Gene of the Month – March: DYRK1A

The role of DYRK1A might be a starting point for developing a molecular strategy to pharmacologically influence genomic instability. DYRK1A encodes the dual specificity tyrosine [...]

READ MORE
By KB
In News, Research
Posted 23. March 2023

Biallelic truncating variants in FILIP1 identified as cause of novel arthrogryposis phenotype with microcephaly

READ MORE
0
By KB
In
Posted 17. March 2023

Interdisciplinary Clinics

READ MORE
By KB
In Gene of the Month
Posted 1. March 2023

Gene of the Month – February: HMGB1

Specific heterozygous variants in HMGB1 cause an extremely rare congenital disorder, called BPTAS, which is characterized mainly by limb malformations including smaller-than-normal or extra [...]

READ MORE
By KB
In Gene of the Month
Posted 3. February 2023

Gene of the Month – January: FGF14

A deep intronic GAA repeat expansion in the gene FGF14 causes a form of cerebellar ataxia manifesting in adulthood. In a study published in the New England Journal of Medicine, scientists [...]

READ MORE
By KB
In News, Research
Posted 10. January 2023

Cellular senescence has beneficial impact on cell mechanics in tissue regeneration

New insights into how senescent cells play a role in wound healing not only through its secretory action but also by impacting on cell mechanics have been provided by a study performed at Charité [...]

READ MORE
1 2 3 4 5 6 7 8 9 ...
page 1 of 17

Institut für Humangenetik
der Universitätsmedizin Göttingen

Direktor: Prof. Dr. med. Bernd Wollnik
Heinrich-Düker-Weg 12
37073 Göttingen
Tel. 0551-39-60606
Fax 0551-39-69303

  • Institute
  • Genetic Counselling
  • Genetic Testing
  • Research
  • Rare Diseases
  • Teaching & Training
  • Forms & Sample Submission
  • Contact & Location
  • Privacy notice
© Institut für Humangenetik der Universitätsmedizin Göttingen
2025
  • Institute
    • Back
    • People
    • Open Positions
    • Quality Management
    • Contact & Location
  • Genetic Counselling
    • Back
    • Frequently Asked Questions
    • Interdisciplinary Clinics
    • Appointments
  • Genetic Testing
    • Back
    • Molecular Genetics
    • Molecular Cytogenetics
    • Cytogenetics
    • Forms & Sample Submission
  • Research
    • Back
    • Main Research Areas
    • MM Team
    • Molecular Developmental Genetics
    • Research Groups
    • Publications
  • Rare Diseases
    • Back
    • Center for Progeroid Syndromes
    • Center for Undiagnosed Congenital Syndromes and Clinical Genome Medicine
  • Teaching & Training
  • News
  • Gene of the Month
  • Privacy
Kontaktieren Sie uns

We're not around right now. But you can send us an email and we'll get back to you, asap.

Not readable? Change text. captcha txt

Start typing and press Enter to search

  • Institute
  • Genetic Counselling
  • Genetic Testing
  • Research
  • Teaching & Training
Cookies help us to provide our services. We only use technically necessary cookies and no tracking or marketing cookies. By using our services, you agree to the use of cookies. Further information