User profiles for "author:Umut Altunoglu"

Umut Altunoglu

Medical Genetics Department, Koc University School of Medicine
Verified email at ku.edu.tr
Cited by 2313

[PDF][PDF] Mutations in WNT1 cause different forms of bone fragility

K Keupp, F Beleggia, H Kayserili, AM Barnes… - The American Journal of …, 2013 - cell.com
We report that hypofunctional alleles of WNT1 cause autosomal-recessive osteogenesis
imperfecta, a congenital disorder characterized by reduced bone mass and recurrent …

[PDF][PDF] CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

AE Schaffer, VRC Eggens, AO Caglayan, MS Reuter… - Cell, 2014 - cell.com
Neurodegenerative diseases can occur so early as to affect neurodevelopment. From a
cohort of more than 2,000 consanguineous families with childhood neurological disease, we …

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

T Roscioli, EJ Kamsteeg, K Buysse, I Maystadt… - Nature …, 2012 - nature.com
Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder
characterized by complex eye and brain abnormalities with congenital muscular dystrophy …

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2

N Bögershausen, V Gatinois, V Riehmer… - Human …, 2016 - Wiley Online Library
Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic
face, short stature, various organ malformations, and a variable degree of intellectual …

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

E Szenker-Ravi, U Altunoglu, M Leushacke… - Nature, 2018 - nature.com
The four R-spondin secreted ligands (RSPO1–RSPO4) act via their cognate LGR4, LGR5
and LGR6 receptors to amplify WNT signalling,–. Here we report an allelic series of …

[HTML][HTML] De novo mutations in PLXND1 and REV3L cause Möbius syndrome

L Tomas-Roca, A Tsaalbi-Shtylik, JG Jansen… - Nature …, 2015 - nature.com
Möbius syndrome (MBS) is a neurological disorder that is characterized by paralysis of the
facial nerves and variable other congenital anomalies. The aetiology of this syndrome has …

Natural history of congenital generalized lipodystrophy: a nationwide study from Turkey

B Akinci, H Onay, T Demir, S Ozen… - The Journal of …, 2016 - academic.oup.com
Context: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder
characterized by near-total lack of body fat. Objective: We aimed to study natural history and …

Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

RM Lardelli, AE Schaffer, VRC Eggens, MS Zaki… - Nature …, 2017 - nature.com
Deadenylases are best known for degrading the poly (A) tail during mRNA decay. The
deadenylase family has expanded throughout evolution and, in mammals, consists of 12 …

Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

RO Rosti, BN Sotak, SL Bielas, G Bhat… - Journal of medical …, 2017 - jmg.bmj.com
Background Microcephaly with nephrotic syndrome is a rare co-occurrence, constituting the
Galloway-Mowat syndrome (GAMOS), caused by mutations in WDR73 (OMIM: 616144) …

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

S Roosing, M Romani, M Isrie, RO Rosti… - Journal of medical …, 2016 - jmg.bmj.com
Background Ciliopathies are an extensive group of autosomal recessive or X-linked
disorders with considerable genetic and clinical overlap, which collectively share multiple …