Results 91 to 100 of about 141,024 (299)

The novel missense mutation Met48Lys in FKBP22 changes its structure and functions. [PDF]

, 2020
Mutations in the FKBP14 gene encoding FKBP22 (FK506 Binding Protein 22 kDa) cause kyphoscoliotic Ehlers-Danlos Syndrome (kEDS). The first clinical report showed that a lack of FKBP22 protein due to mutations causing nonsense-mediated decay of the mRNA ...
Bächinger, Hans Peter, Giunta, Cecilia, Gould, Douglas B, Holden, Paul, Ishikawa, Yoshihiro, Lim, Pei Jin, Mizuno, Nobuyo, Rohrbach, Marianne   +7 more
core  

The molecular genetic analysis of the expanding pachyonychia congenita case collection [PDF]

, 2014
BACKGROUND: Pachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy, often accompanied by oral leucokeratosis, cysts and follicular keratosis.
Al-Asadi, E., Hansen, C. D., McLean, W. H. I., Milstone, L. M., O'Toole, E., Schwartz, M. E., Shepherd, A. A., Smith, F. J. D., Sprecher, E., Wilson, N. J.   +9 more
core   +3 more sources

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients

Annals of Indian Academy of Neurology, 2011
Purpose: Mutations of the a-1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). To date, over 300 mutations related to SMEI have been described.
Meral Özmen, Cengiz Dilber, Burak Tatli, Nur Aydinli, Mine Çaliskan, Baris Ekici   +5 more
doaj   +1 more source

Full UPF3B function is critical for neuronal differentiation of neural stem cells [PDF]

, 2015
Acknowledgments We thank Fred H Gage (Salk Institute, La Jolla, CA, USA) for HCN-A94 cells and Niels Gehring (University of Cologne, Germany) for constructs.
Alrahbeni, Tahani, Anderson, Jihan, McCaig, Colin, Miedzybrodzka, Zosia, Muller, Berndt, Sartor, Francesca   +5 more
core   +2 more sources

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Diabetes mellitus and other pathology in patients with INS and INSR mutations

Сахарный диабет, 2012
Over 20 missense mutations and Y108X nonsense mutation in INS are dominant and induce synthesis of chimeric proteins that may interfere with folding and processing of all insulin molecules.
Yury Alexandrovich Pankov
doaj   +1 more source

Nonsense suppression induced readthrough of a novel PAX6 mutation in patient‐derived cells of congenital aniridia

Molecular Genetics & Genomic Medicine, 2020
Background Congenital aniridia is a severe ocular abnormality characterized by incomplete formation of the iris and many other ocular complications. Most cases are caused by the paired box 6 (PAX6) gene mutations generating premature termination codons ...
Xiaoliang Liu, Yuanyuan Zhang, Bijun Zhang, Haiming Gao, Chuang Qiu   +4 more
doaj   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

A novel nonsense mutation in cathepsin C gene in an Egyptian patient presenting with Papillon–Lefèvre syndrome

Egyptian Journal of Medical Human Genetics, 2015
Background Cathepsin C gene (CTSC) (MIM#602365) is a lysosomal cysteine proteinase coding gene which encodes for CTSC protein that plays a major role in the activation of granule serine proteases, particularly leukocyte elastase and granzymes A and B ...
Hala Soliman, Heba Gamal Eldeen, Mustafa Ibrahim Mustafa   +2 more
doaj   +1 more source