Results 271 to 280 of about 1,703,111 (346)

Congenital Hereditary Endothelial Dystrophy: A Review of the Molecular Pathogenesis, Genetic Basis, and Emerging Treatments. [PDF]

Clin Ophthalmol
Jomar DE, Khayyat W, Almontashiri NAM, Ahmad K, Hameed S, Al-Swailem SA.   +5 more
europepmc   +1 more source

Hox Gene Variation Drives Morphological Specialization of Humpback Grouper Cromileptes altivelis

Integrative Zoology, EarlyView.
Cromileptes altivelis exhibits a distinctive “sunken head and humpback” morphology, formed through cranial remodeling. Genetic analyses identified unique amino acid variants in Hoxa7a and Hoxa10b, with functional tests confirming their role in enhancing osteoblast activity and driving cranial remodeling.
Xiaoying Cao, Zhaowei Zhong, Lisheng Wu, Quanyin Liu, Shaoxiong Ding   +4 more
wiley   +1 more source

Integrating evidence from protein domains to identify cancer driver mutations. [PDF]

Protein Sci
Ostroverkhova D, Sheng Y, Rogozin I, Panchenko AR.   +3 more
europepmc   +1 more source

The Importance of Neuropathology in a Complex Movement Disorder with Primary Familial Brain Calcification

Movement Disorders, EarlyView.
Ida Gugler, Per Svenningsson, Inger Nennesmo, Martin Paucar   +3 more
wiley   +1 more source

Museomics Deciphers the Phylogeographic Differentiation and Conservation Status of a Montane Pheasant

Integrative Zoology, EarlyView.
Museum specimens provide a rich source of historical DNA, enabling insights into phylogenetic relationships and demographic history of the endangered Koklass Pheasant. Our findings uncovered a previously unrecognized population in Guizhou province and highlighted elevated extinction risk in populations from Anhui province and Southern China, informing ...
Zhiyong Jiang, Yalin Cheng, Shuai Zhang, Wenqing Zang, Peng He, Dezhi Zhang, Jinjuan Mei, Peng Cui, Yanhua Qu, Hailong Wu   +9 more
wiley   +1 more source

Phenotypic impact on coat color and uterine development in mice carrying a missense mutation associated with bovine White Heifer Disease. [PDF]

J Vet Med Sci
Wu Y, Sekiguchi M, Nakadaira Y, Ishiyama D, Magata F, Fujii W, Kyuwa S, Matsuda F, Kakuta S.   +8 more
europepmc   +1 more source

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language [PDF]

, 2018
Fiala, Elise, Willing, Marcia
core   +1 more source

STUB1 (SCA48)/TBP (SCA17): A Frequent Association Still Not Fully Explained and a Lower Threshold for Intermediate Expanded TBP Alleles

Movement Disorders, EarlyView.
Cecilia Marelli, Quentin Charret, Cyril Goizet, Julien Thevenon, Virginie Bernard, Fabienne Ory Magne, Manon Degoutin, Patricia Fergelot, Mathilde Renaud, Michel Koenig, Francis Ramond   +10 more
wiley   +1 more source

Novel compound heterozygous <i>PKHD1</i> mutations in a Chinese ARPKD pedigree and analysis of genotype-phenotype correlations. [PDF]

Front Med (Lausanne)
Zhao J, Yu K, Huang Y.
europepmc   +1 more source

Chromodomain Helicase DNA–Binding Proteins and Spermatogenesis: Current Advances

Andrology, EarlyView.
ABSTRACT Background Male infertility is a prevalent clinical condition, with approximately one‐third of cases classified as idiopathic, frequently stemming from impaired spermatogenesis because of dysregulated gene expression. Chromodomain helicase DNA‐binding (CHD) proteins are central chromatin remodelers that orchestrate this epigenetic regulation ...
Mingrui Zhang, Di Liu, Guoqiang Liu, Minggang Zhu, Feng Pan   +4 more
wiley   +1 more source