Results 61 to 70 of about 17,949 (246)

Co‐ and Multi‐Pathologies in Parkinson's Disease: An International Parkinson and Movement Disorder Society Scientific Issues Committee Review

Movement Disorders, EarlyView.
Abstract Parkinson's disease (PD) has been historically defined as a disease of striatal dopamine deficiency secondary to degeneration of dopaminergic neurons in the substantia nigra pars compacta, related to the presence of Lewy bodies and Lewy neurites.
Michele Matarazzo, Per Borghammer, Inas Elsayed, Jennifer G. Goldman, Yue Huang, Katja Lohmann, Per Svenningsson, Lorraine V. Kalia, Daniela Berg, Jeffrey H. Kordower, the MDS Scientific Issues Committee   +10 more
wiley   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

Molecular Autism, 2018
Background We previously performed targeted sequencing of autism risk genes in probands from the Autism Clinical and Genetic Resources in China (ACGC) (phase I).
Hui Guo, Tianyun Wang, Huidan Wu, Min Long, Bradley P. Coe, Honghui Li, Guanglei Xun, Jianjun Ou, Biyuan Chen, Guiqin Duan, Ting Bai, Ningxia Zhao, Yidong Shen, Yun Li, Yazhe Wang, Yu Zhang, Carl Baker, Yanling Liu, Nan Pang, Lian Huang, Lin Han, Xiangbin Jia, Cenying Liu, Hailun Ni, Xinyi Yang, Lu Xia, Jingjing Chen, Lu Shen, Ying Li, Rongjuan Zhao, Wenjing Zhao, Jing Peng, Qian Pan, Zhigao Long, Wei Su, Jieqiong Tan, Xiaogang Du, Xiaoyan Ke, Meiling Yao, Zhengmao Hu, Xiaobing Zou, Jingping Zhao, Raphael A. Bernier, Evan E. Eichler, Kun Xia   +44 more
doaj   +1 more source

The Utilisation of Genetic Counselling Services Amongst Prenatal Healthcare Providers in Gauteng, South Africa

Prenatal Diagnosis, EarlyView.
ABSTRACT Introduction Congenital anomalies and genetic disorders contribute substantially to perinatal morbidity and mortality, particularly in low‐ and middle‐income countries. Prenatal healthcare providers play a key role in identifying affected pregnancies and referring to patients for genetic counselling; however, referral practices remain ...
Megan Duvenhage, Katryn Fourie, Monica Araujo   +2 more
wiley   +1 more source

Genetyka łuszczycy – od badań serologicznych antygenów zgodności tkankowej do badań asocjacyjnych całego genomu

Przegląd Dermatologiczny, 2011
Psoriasis is a complex disease with multifactorial mode of inheritance,whichmeans that its clinicalmanifestations depend uponmultiple genesinteracting with environmental agents.
Aneta Szczerkowska-Dobosz, Krzysztof Rębała   +1 more
doaj  

Unravelling the genetic and epidemiological landscape of Handigodu syndrome in Southern India

Egyptian Journal of Medical Human Genetics
Background Handigodu syndrome is a rare, progressive osteoarticular disorder endemic to the Malnad region of Karnataka, India. It predominantly affects the Chanangi and Chaluvadi communities in the Shivamogga and Chikkamagaluru districts.
Cicil Elsa Siby, Ismail Beary, Ranajit Das   +2 more
doaj   +1 more source

Genetic susceptibility to vitiligo: Recent progress from genome-wide association studies

Dermatologica Sinica, 2014
Generalized vitiligo (GV) is a complicated disease in which patchy depigmentation results from the autoimmune loss of melanocytes from affected regions. It may follow a pattern of polygenetic or multifactorial inheritance. Previously, a number of genetic
Zheng Zhang, Leihong Flora Xiang
doaj   +1 more source

multifactorial inheritance

Citation: 'multifactorial inheritance' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10981 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
openaire   +1 more source

Sickle Cell Disease: Historical Overview and Current Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide, yet the limited treatment options currently available do not always adequately control the disease and carry significant side effects. At present, the only curative treatment is hematopoietic stem cell (HSC) transplantation, a procedure that carries considerable challenges and numerous ...
Oluwaseun O. Babatunde, Madeleine G. Bibby, Anthony Atala, Graça Almeida‐Porada, Christopher D. Porada   +4 more
wiley   +1 more source

Family-based GWAS for dental class I malocclusion and clefts

BMC Oral Health
Background Individuals born with cleft lip and/or palate who receive corrective surgery regularly have abnormal growth in the midface region such that they exhibit premaxillary hypoplasia.
Mariana Bezamat, Chelsea E. Carver, Alexandre R. Vieira   +2 more
doaj   +1 more source