Refine my results

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype

Abdalla, Ebtesam ; Rohrbach, Marianne ; Bürer, Céline ; Kraenzlin, Marius ; El-Tayeby, Hazem ; Elbelbesy, Mervat ; Nabil, Amira ; Giunta, Cecilia

In: European Journal of Pediatrics, 2015, vol. 174, no. 1, p. 105-112

The transcriptional regulator CBX2 and ovarian function: A whole genome and whole transcriptome approach

Bouazzi, Leila ; Sproll, Patrick ; Eid, Wassim ; Biason-Lauber, Anna

In: Scientific Reports, 2019, vol. 9, no. 1, p. 1–18

The chromobox homolog 2 (CBX2) was found to be important for human testis development, but its role in the human ovary remains elusive. We conducted a genome-wide analysis based on DNA adenine methyltransferase identification (DamID) and RNA sequencing strategies to investigate CBX2 in the human granulosa cells. Functional analysis revealed that CBX2 was upstream of genes contributing to ...

Post ER quality control : a role for UDP-glucose : glycoprotein glucosyl transferase and p97

Fregno, Ilaria ; Molinari, Maurizio

In: Journal of rare diseases research & treatment, 2016, vol. 1, no. 1, p. 40-42

Human proteinopathies are diseases caused by the expression of defective gene products. In some cases, these diseases involve the degradation of mutant but otherwise functional proteins by the quality control system of the secretory pathway. Our recent study identified two proteins that play a role in post-endoplasmic reticulum (ER) quality control and are potential targets for therapeutic ...

Vitamin C promotes pluripotency of human induced pluripotent stem cells via the histone demethylase JARID1A

Eid, Wassim ; Abdel-Rehim, Wafaa

In: Biological Chemistry, 2016, vol. 397, no. 11, p. 1205-1213

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

Basel-Vanagaite, Lina ; Yilmaz, Rüstem ; Tang, Sha ; Reuter, Miriam ; Rahner, Nils ; Grange, Dorothy ; Mortenson, Megan ; Koty, Patrick ; Feenstra, Heather ; Farwell Gonzalez, Kelly ; Sticht, Heinrich ; Boddaert, Nathalie ; Désir, Julie ; Anyane-Yeboa, Kwame ; Zweier, Christiane ; Reis, André ; Kubisch, Christian ; Jewett, Tamison ; Zeng, Wenqi ; Borck, Guntram

In: Human Genetics, 2014, vol. 133, no. 7, p. 939-949

Dal Cairo a Roma. Visual Arts and Transcultural Interactions between Egypt and Italy

Radwan, Nadia

In: Asiatische Studien - Études Asiatiques, 2016, vol. 70, no. 4, p. 1093-1114

Frühkollagenosen = Early stage connective tissue diseases

Distler, O.

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism

Stucki, Martin ; Coelho, David ; Suormala, Terttu ; Burda, Patricie ; Fowler, Brian ; Baumgartner, Matthias R.

In: Human Molecular Genetics, 2012, vol. 21, no. 6, p. 1410-1418

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability

Rosin, Nadine ; Elcioglu, Nursel H. ; Beleggia, Filippo ; Isgüven, Pinar ; Altmüller, Janine ; Thiele, Holger ; Steindl, Katharina ; Joset, Pascal ; Rauch, Anita ; Nürnberg, Peter ; Wollnik, Bernd ; Yigit, Gökhan

In: Human Molecular Genetics, 2015, vol. 24, no. 13, p. 3708-3717

Der Stern Sirius im Alten Ägypten

Gautschy, Rita

In: Zeitschrift für Ägyptische Sprache und Altertumskunde, 2011, vol. 138, no. 2, p. 116-131