Results 91 to 100 of about 714,611 (262)

A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty

, 1996
Familial male-limited precocious puberty (FMPP) is a condition where only males are affected, manifesting puberty prematurely due to autonomous hyperfunction of Leydig cells.
Maria Giuseppina Marini, and Paolo Moi, Sandro Cocco, Antonio Cao, Antonella Meloni   +4 more
core  

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Congenital tooth agenesis-related EDAR variants and pedigree analysis of HED patients with two variants

Shanghai Jiaotong Daxue xuebao. Yixue ban
Objective·To explore EDAR (ectodysplasin A receptor) gene variants that lead to congenital tooth agenesis, and preliminarily analyze the reasons why variants in EDAR can cause both syndromic and non-syndromic tooth agenesis.Methods·Patients with ...
LAN Rong, DAI Qinggang, YU Kang, BIAN Xiaoling, YE Lijuan, WU Yiqun, WANG Feng   +6 more
doaj   +1 more source

Impact of single nucleotide polymorphisms in leptin, leptin receptor, growth hormone receptor, and diacylglycerol acyltransferase (DGAT1) gene loci on milk production, feed, and body energy traits of UK dairy cows [PDF]

, 2008
The impact of 9 single nucleotide polymorphisms (SNP) in the leptin (LEP), leptin receptor (LEPR), growth hormone receptor (GHR), and diacylglycerol acyltransferase (DGAT1) gene loci on daily milk production, feed intake, and feed conversion, and weekly ...
Woodward, B. W., Forbes, A. B., Coffey, M. P., Banos, G., Woolliams, J. A.   +4 more
core   +1 more source

Deep Contrastive Learning for High‐Throughput Prediction of Drug Resistance Mutations from Sequences

Advanced Science, EarlyView.
This study presents DeepMutDTA, a deep learning framework aimed at predicting mutation‐induced changes in protein‐drug interactions and prioritizing variants potentially linked to drug resistance. Trained on large‐scale data, it incorporates SimSiam‐MuTF, a label‐aware contrastive fine‐tuning strategy that encourages separation between WT and MT ...
Xiaowen Hu, Pan Zhang, Shangqian Wu, Hao Sun, Minwei Li, Sophia Tsoka, Zizhang Sheng, Lei Deng   +7 more
wiley   +1 more source

Fragile X syndrome due to a missense mutation

, 2014
Fragile X syndrome is a common inherited form of intellectual disability and autism spectrum disorder. Most patients exhibit a massive CGG-repeat expansion mutation in the FMR1 gene that silences the locus. In over two decades since the discovery of FMR1,
Noralane M Lindor, Stephen T Warren, Lindor, Noralane M., Xiaodong Cheng, Nakamoto-Kinoshita, Mika, Salman Kirmani, Cheng, Xiaodong, Mika Nakamoto-Kinoshita, Kirmani, Salman, Myrick, Leila K., Leila K Myrick, Warren, Stephen T.   +11 more
core   +1 more source

Auto‐Downregulation of the Florigen FT Production Prevents Precocious Flowering in Plants

Advanced Science, EarlyView.
This study shows that the leaf vein‐expressed FD complexes with the florigen FT to bind DNA motifs in FT promoter, which antagonizes CONSTANS‐mediated FT activation to feedback down‐regulate FT expression. This prevents an excessive induction of FT expression by inductive photoperiods, thereby precluding precocious transition to flowering in ...
Shu Tian, Xiao Luo, Bowen Cui, Yuehui He
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension

Respiratory Research, 2009
Background Autosomal dominant inheritance of germline mutations in the bone morphogenetic protein receptor type 2 (BMPR2) gene are a major risk factor for pulmonary arterial hypertension (PAH). While previous studies demonstrated a difference in severity
Wheeler Lisa A, Phillips Charles A, Stanton Krista C, Yu Chang, Hamid Rizwan, Cogan Joy D, Phillips John A, Austin Eric D, Robbins Ivan M, Newman John H, Loyd James E   +10 more
doaj   +1 more source