Results 71 to 80 of about 306,932 (310)

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Developmental dyslexia: Genetic dissection of a complex cognitive trait [PDF]

, 2002
Developmental dyslexia, a specific impairment of reading ability despite adequate intelligence and educational opportunity, is one of the most frequent childhood disorders.
DeFries, J., Fisher, S.
core   +2 more sources

Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates. [PDF]

, 2020
Current evidence from case/control studies indicates that genetic risk for psychiatric disorders derives primarily from numerous common variants, each with a small phenotypic impact. The literature describing apparent segregation of bipolar disorder (BP)
Aldana, Ileana, Araya, Carmen, Araya, Xinia, Bearden, Carrie E, Bedoya, Gabriel, Bejarano, Julio, Cantor, Rita M, Castrillón, Gabriel, Coppola, Giovanni, Escobar, Javier I, Fears, Scott C, Freimer, Nelson B, Gomez-Makhinson, Juliana, Huang, Alden Y, Hwang, Sun-Goo, Kremeyer, Barbara, Lopez, Maria C, Lopez-Jaramillo, Carlos, Macaya, Gabriel, Molina, Julio, Montoya, Claudia P, Montoya, Gabriel, Mullins, Niamh, Olde Loohuis, Loes M, Ophoff, Roel A, Ori, Anil PS, Ospina-Duque, Jorge, Park, YoungJun, Ramensky, Vasily, Ramirez, Margarita, Reus, Victor, Ruiz-Linares, Andres, Sabatti, Chiara, Service, Susan K, Spesny, Mitzi, Sul, Jae Hoon, Teshiba, Terri M, Zhang, Zhongyang   +37 more
core   +3 more sources

Biallelic Inactivation of NSD1 Associated With Carcinogenesis in Sotos Syndrome

Pediatric Blood &Cancer, EarlyView.
Nicholas A. Borja, Anuja Sule, Katie Ann McMullen, Aditi Dhir, Matthew D. Hall, Heather J. McCrea, Sakir Humayun Gultekin, Mustafa Tekin, Bradley Gampel   +8 more
wiley   +1 more source

PICALM::MLLT10 translocated leukemia

FEBS Letters, EarlyView.
This comprehensive review of PICALM::MLLT10 translocated acute leukemia provides an in‐depth review of the structure and function of CALM, AF10, and the fusion oncoprotein (1). The multifaceted molecular mechanisms of oncogenesis, including nucleocytoplasmic shuttling (2), epigenetic modifications (3), and disruption of endocytosis (4), are then ...
John M. Cullen, Antonia C. Nakatsugawa, Natalie Barton, Henry Haines, Gary S. Stein, Janet L. Stein, Daniel S. Wechsler, Jessica L. Heath   +7 more
wiley   +1 more source

Cell wall target fragment discovery using a low‐cost, minimal fragment library

FEBS Letters, EarlyView.
LoCoFrag100 is a fragment library made up of 100 different compounds. Similarity between the fragments is minimized and 10 different fragments are mixed into a single cocktail, which is soaked to protein crystals. These crystals are analysed by X‐ray crystallography, revealing the binding modes of the bound fragment ligands.
Kaizhou Yan, Mathew Stanley, Olawale Raimi, Andrew T. Ferenbach, Helge C Dorfmueller, Daan M. F. van Aalten   +5 more
wiley   +1 more source

The Ophthalmological Manifestations of Various Inborn Errors of Metabolism: A Narrative Review

Journal of Pediatrics Review, 2021
Context: Inborn errors of metabolism or Inherited Metabolic Disorders (IMD) are a class of genetic disorders that occur because of single-gene defects. Evidence Acquisition: In this narrative review article, the authors searched Institute for Scientific ...
Abdolreza Medghalchi, Afagh Hassanzadeh Rad, Setila Dalili   +2 more
doaj  

The Further Adventures of Newborn Screening for Biotinidase Deficiency: Where It Is at and What We Still Need to Know

International Journal of Neonatal Screening, 2016
Biotinidase deficiency is an inherited metabolic disorder that, if untreated, can result in neurological and cutaneous symptoms. If treated with the vitamin biotin, individuals with the disorder can markedly improve, but still may have some irreversible ...
Barry Wolf
doaj   +1 more source

A novel homozygous GFI1B variant in 2 sisters with thrombocytopenia and severe bleeding tendency

Platelets, 2021
Genetic variants in growth factor-independent 1B (GFI1B), encoding transcription factor GFI1B, are causative of platelet-type bleeding disorder-17. Presently, 53 cases of GFI1B associated inherited thrombocytopenia (IT) have been published, however only ...
Nanna Brøns, Carlo Zaninetti, Sisse Rye Ostrowski, Jesper Petersen, Andreas Greinacher, Maria Rossing, Eva Leinøe   +6 more
doaj   +1 more source

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. [PDF]

, 2003
BACKGROUND\ud \ud Mutations of the transforming growth factor beta (TGFbeta) receptor components ENDOGLIN and ALK-1 cause the autosomal dominant vascular disorder hereditary haemorrhagic telangiectasia (HHT).
Harrison, R E, Flanagan, J A, Sankelo, M, Abdalla, S A, Rowell, J, Machado, R D, Elliott, C G, Robbins, I M, Olschewski, H, McLaughlin, V, Gruenig, E, Kermeen, F, Halme, M, Räisänen-Sokolowski, A, Laitinen, T, Morrell, N W, Trembath, R C   +16 more
core   +1 more source