journal
https://read.qxmd.com/read/38749428/de-novo-missense-variants-in-exon-9-of-sephs1-cause-a-neurodevelopmental-condition-with-developmental-delay-poor-growth-hypotonia-and-dysmorphic-features
#1
Sureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Austin Sekula, Hua Gao, Joseph T Alaimo, Kendra Engleman, Eric T Rush, Karli Blocker, Katrina M Dipple, Veronica M Fettig, Heather Hare, Ian Glass, Dorothy K Grange, Michael Griffin, Chanika Phornphutkul, Lauren Massingham, Lakshmi Mehta, Danny E Miller, Jenny Thies, J Lawrence Merritt, Eric Muller, Matthew Osmond, Sarah L Sawyer, Rachel Slaugh, Rachel E Hickey, Barry Wolf, Sanjeev Choudhary, Miljan Simonović, Yueqing Zhang, Timothy Blake Palculict, Aida Telegrafi, Deanna Alexis Carere, Ingrid M Wentzensen, Michelle M Morrow, Kristin G Monaghan, Jane Juusola, Jun Yang
No abstract text is available yet for this article.
May 14, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38759652/genome-wide-dna-methylation-changes-in-human-spermatogenesis
#2
JOURNAL ARTICLE
Lara M Siebert-Kuss, Verena Dietrich, Sara Di Persio, Jahnavi Bhaskaran, Martin Stehling, Jann-Frederik Cremers, Sarah Sandmann, Julian Varghese, Sabine Kliesch, Stefan Schlatt, Juan M Vaquerizas, Nina Neuhaus, Sandra Laurentino
Sperm production and function require the correct establishment of DNA methylation patterns in the germline. Here, we examined the genome-wide DNA methylation changes during human spermatogenesis and its alterations in disturbed spermatogenesis. We found that spermatogenesis is associated with remodeling of the methylome, comprising a global decline in DNA methylation in primary spermatocytes followed by selective remethylation, resulting in a spermatids/sperm-specific methylome. Hypomethylated regions in spermatids/sperm were enriched in specific transcription factor binding sites for DMRT and SOX family members and spermatid-specific genes...
May 11, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38744284/missense-variants-in-ano4-cause-sporadic-encephalopathic-or-familial-epilepsy-with-evidence-for-a-dominant-negative-effect
#3
JOURNAL ARTICLE
Fang Yang, Anais Begemann, Nadine Reichhart, Akvile Haeckel, Katharina Steindl, Eyk Schellenberger, Ronja Fini Sturm, Magalie Barth, Sissy Bassani, Paranchai Boonsawat, Thomas Courtin, Bruno Delobel, Boudewijn Gunning, Katia Hardies, Mélanie Jennesson, Louis Legoff, Tarja Linnankivi, Clément Prouteau, Noor Smal, Marta Spodenkiewicz, Sandra P Toelle, Koen Van Gassen, Wim Van Paesschen, Nienke Verbeek, Alban Ziegler, Markus Zweier, Anselm H C Horn, Heinrich Sticht, Holger Lerche, Sarah Weckhuysen, Olaf Strauß, Anita Rauch
Anoctamins are a family of Ca2+ -activated proteins that may act as ion channels and/or phospholipid scramblases with limited understanding of function and disease association. Here, we identified five de novo and two inherited missense variants in ANO4 (alias TMEM16D) as a cause of fever-sensitive developmental and epileptic or epileptic encephalopathy (DEE/EE) and generalized epilepsy with febrile seizures plus (GEFS+) or temporal lobe epilepsy. In silico modeling of the ANO4 structure predicted that all identified variants lead to destabilization of the ANO4 structure...
May 10, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38754426/an-integrative-framework-to-prioritize-genes-in-more-than-500-loci-associated-with-body-mass-index
#4
JOURNAL ARTICLE
Daiane Hemerich, Victor Svenstrup, Virginia Diez Obrero, Michael Preuss, Arden Moscati, Joel N Hirschhorn, Ruth J F Loos
Obesity is a major risk factor for a myriad of diseases, affecting >600 million people worldwide. Genome-wide association studies (GWASs) have identified hundreds of genetic variants that influence body mass index (BMI), a commonly used metric to assess obesity risk. Most variants are non-coding and likely act through regulating genes nearby. Here, we apply multiple computational methods to prioritize the likely causal gene(s) within each of the 536 previously reported GWAS-identified BMI-associated loci...
May 9, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38749429/therapeutic-validation-of-mmr-associated-genetic-modifiers-in-a-human-ex%C3%A2-vivo-model-of-huntington-disease
#5
JOURNAL ARTICLE
Ross Ferguson, Robert Goold, Lucy Coupland, Michael Flower, Sarah J Tabrizi
The pathological huntingtin (HTT) trinucleotide repeat underlying Huntington disease (HD) continues to expand throughout life. Repeat length correlates both with earlier age at onset (AaO) and faster progression, making slowing its expansion an attractive therapeutic approach. Genome-wide association studies have identified candidate variants associated with altered AaO and progression, with many found in DNA mismatch repair (MMR)-associated genes. We examine whether lowering expression of these genes affects the rate of repeat expansion in human ex vivo models using HD iPSCs and HD iPSC-derived striatal medium spiny neuron-enriched cultures...
May 8, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38733992/a-multi-tissue-splicing-based-joint-transcriptome-wide-association-study-identifies-susceptibility-genes-for-breast-cancer
#6
JOURNAL ARTICLE
Guimin Gao, Julian McClellan, Alvaro N Barbeira, Peter N Fiorica, James L Li, Zepeng Mu, Olufunmilayo I Olopade, Dezheng Huo, Hae Kyung Im
Splicing-based transcriptome-wide association studies (splicing-TWASs) of breast cancer have the potential to identify susceptibility genes. However, existing splicing-TWASs test the association of individual excised introns in breast tissue only and thus have limited power to detect susceptibility genes. In this study, we performed a multi-tissue joint splicing-TWAS that integrated splicing-TWAS signals of multiple excised introns in each gene across 11 tissues that are potentially relevant to breast cancer risk...
May 8, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38723631/a-syndromic-neurodevelopmental-disorder-caused-by-rare-variants-in-ppfia3
#7
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Jill A Rosenfeld, Vanesa C Lerma, Alyssa Tran, Megan A Longley, Richard A Lewis, Monika Weisz-Hubshman, Mir Reza Bekheirnia, Nasim Bekheirnia, Lauren Massingham, Michael Zech, Matias Wagner, Hartmut Engels, Kirsten Cremer, Elisabeth Mangold, Sophia Peters, Jessica Trautmann, Claudia Perne, Jessica L Mester, Maria J Guillen Sacoto, Richard Person, Pamela P McDonnell, Stacey R Cohen, Laina Lusk, Ana S A Cohen, Jean-Baptiste Le Pichon, Tomi Pastinen, Dihong Zhou, Kendra Engleman, Caroline Racine, Laurence Faivre, Sébastien Moutton, Anne-Sophie Denommé-Pichon, Hyun Yong Koh, Annapurna Poduri, Jeffrey Bolton, Cordula Knopp, Dong Sun Julia Suh, Andrea Maier, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Reza Maroofian, Gerald Bradley Schaefer, Vijayalakshmi Ramakumaran, Pradeep Vasudevan, Benito Banos-Pinero, Alistair T Pagnamenta, Chitra Prasad, Matthew Osmond, Sarah Schuhmann, Georgia Vasileiou, Sophie Russ-Hall, Ingrid E Scheffer, Gemma L Carvill, Heather Mefford, Carlos A Bacino, Brendan H Lee, Hsiao-Tuan Chao 趙孝端
No abstract text is available yet for this article.
May 8, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38749427/joint-host-pathogen-genomic-analysis-identifies-hepatitis-b-virus-mutations-associated-with-human-ntcp-and-hla-class-i-variation
#8
JOURNAL ARTICLE
Zhi Ming Xu, Gnimah Eva Gnouamozi, Sina Rüeger, Patrick R Shea, Maria Buti, Henry Ly Chan, Patrick Marcellin, Dylan Lawless, Olivier Naret, Matthias Zeller, Arne Schneuing, Andreas Scheck, Thomas Junier, Darius Moradpour, Ondrej Podlaha, Vithika Suri, Anuj Gaggar, Mani Subramanian, Bruno Correia, David Gfeller, Stephan Urban, Jacques Fellay
Evolutionary changes in the hepatitis B virus (HBV) genome could reflect its adaptation to host-induced selective pressure. Leveraging paired human exome and ultra-deep HBV genome-sequencing data from 567 affected individuals with chronic hepatitis B, we comprehensively searched for the signatures of this evolutionary process by conducting "genome-to-genome" association tests between all human genetic variants and viral mutations. We identified significant associations between an East Asian-specific missense variant in the gene encoding the HBV entry receptor NTCP (rs2296651, NTCP S267F) and mutations within the receptor-binding region of HBV preS1...
May 7, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38723632/integrative-multi-omics-analyses-to-identify-the-genetic-and-functional-mechanisms-underlying-ovarian-cancer-risk-regions
#9
JOURNAL ARTICLE
Eileen O Dareng, Simon G Coetzee, Jonathan P Tyrer, Pei-Chen Peng, Will Rosenow, Stephanie Chen, Brian D Davis, Felipe Segato Dezem, Ji-Heui Seo, Robbin Nameki, Alberto L Reyes, Katja K H Aben, Hoda Anton-Culver, Natalia N Antonenkova, Gerasimos Aravantinos, Elisa V Bandera, Laura E Beane Freeman, Matthias W Beckmann, Alicia Beeghly-Fadiel, Javier Benitez, Marcus Q Bernardini, Line Bjorge, Amanda Black, Natalia V Bogdanova, Kelly L Bolton, James D Brenton, Agnieszka Budzilowska, Ralf Butzow, Hui Cai, Ian Campbell, Rikki Cannioto, Jenny Chang-Claude, Stephen J Chanock, Kexin Chen, Georgia Chenevix-Trench, Yoke-Eng Chiew, Linda S Cook, Anna DeFazio, Joe Dennis, Jennifer A Doherty, Thilo Dörk, Andreas du Bois, Matthias Dürst, Diana M Eccles, Gabrielle Ene, Peter A Fasching, James M Flanagan, Renée T Fortner, Florentia Fostira, Aleksandra Gentry-Maharaj, Graham G Giles, Marc T Goodman, Jacek Gronwald, Christopher A Haiman, Niclas Håkansson, Florian Heitz, Michelle A T Hildebrandt, Estrid Høgdall, Claus K Høgdall, Ruea-Yea Huang, Allan Jensen, Michael E Jones, Daehee Kang, Beth Y Karlan, Anthony N Karnezis, Linda E Kelemen, Catherine J Kennedy, Elza K Khusnutdinova, Lambertus A Kiemeney, Susanne K Kjaer, Jolanta Kupryjanczyk, Marilyne Labrie, Diether Lambrechts, Melissa C Larson, Nhu D Le, Jenny Lester, Lian Li, Jan Lubiński, Michael Lush, Jeffrey R Marks, Keitaro Matsuo, Taymaa May, John R McLaughlin, Iain A McNeish, Usha Menon, Stacey Missmer, Francesmary Modugno, Melissa Moffitt, Alvaro N Monteiro, Kirsten B Moysich, Steven A Narod, Tu Nguyen-Dumont, Kunle Odunsi, Håkan Olsson, N Charlotte Onland-Moret, Sue K Park, Tanja Pejovic, Jennifer B Permuth, Anna Piskorz, Darya Prokofyeva, Marjorie J Riggan, Harvey A Risch, Cristina Rodríguez-Antona, Mary Anne Rossing, Dale P Sandler, V Wendy Setiawan, Kang Shan, Honglin Song, Melissa C Southey, Helen Steed, Rebecca Sutphen, Anthony J Swerdlow, Soo Hwang Teo, Kathryn L Terry, Pamela J Thompson, Liv Cecilie Vestrheim Thomsen, Linda Titus, Britton Trabert, Ruth Travis, Shelley S Tworoger, Ellen Valen, Els Van Nieuwenhuysen, Digna Velez Edwards, Robert A Vierkant, Penelope M Webb, Clarice R Weinberg, Rayna Matsuno Weise, Nicolas Wentzensen, Emily White, Stacey J Winham, Alicja Wolk, Yin-Ling Woo, Anna H Wu, Li Yan, Drakoulis Yannoukakos, Nur Zeinomar, Wei Zheng, Argyrios Ziogas, Andrew Berchuck, Ellen L Goode, David G Huntsman, Celeste L Pearce, Susan J Ramus, Thomas A Sellers, Matthew L Freedman, Kate Lawrenson, Joellen M Schildkraut, Dennis Hazelett, Jasmine T Plummer, Siddhartha Kar, Michelle R Jones, Paul D P Pharoah, Simon A Gayther
To identify credible causal risk variants (CCVs) associated with different histotypes of epithelial ovarian cancer (EOC), we performed genome-wide association analysis for 470,825 genotyped and 10,163,797 imputed SNPs in 25,981 EOC cases and 105,724 controls of European origin. We identified five histotype-specific EOC risk regions (p value <5 × 10-8 ) and confirmed previously reported associations for 27 risk regions. Conditional analyses identified an additional 11 signals independent of the primary signal at six risk regions (p value <10-5 )...
May 7, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38723630/cis-and-trans-eqtl-twass-of-breast-and-ovarian-cancer-identify-more-than-100-susceptibility-genes-in-the-bcac-and-ocac-consortia
#10
JOURNAL ARTICLE
S Taylor Head, Felipe Dezem, Andrei Todor, Jingjing Yang, Jasmine Plummer, Simon Gayther, Siddhartha Kar, Joellen Schildkraut, Michael P Epstein
Transcriptome-wide association studies (TWASs) have investigated the role of genetically regulated transcriptional activity in the etiologies of breast and ovarian cancer. However, methods performed to date have focused on the regulatory effects of risk-associated SNPs thought to act in cis on a nearby target gene. With growing evidence for distal (trans) regulatory effects of variants on gene expression, we performed TWASs of breast and ovarian cancer using a Bayesian genome-wide TWAS method (BGW-TWAS) that considers effects of both cis- and trans-expression quantitative trait loci (eQTLs)...
May 2, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38703768/shaprs-leveraging-shared-genetic-effects-across-traits-or-ancestries-improves-accuracy-of-polygenic-scores
#11
JOURNAL ARTICLE
Martin Kelemen, Elena Vigorito, Laura Fachal, Carl A Anderson, Chris Wallace
We present shaPRS, a method that leverages widespread pleiotropy between traits or shared genetic effects across ancestries, to improve the accuracy of polygenic scores. The method uses genome-wide summary statistics from two diseases or ancestries to improve the genetic effect estimate and standard error at SNPs where there is homogeneity of effect between the two datasets. When there is significant evidence of heterogeneity, the genetic effect from the disease or population closest to the target population is maintained...
April 27, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38688277/telomere-lengthening-germline-variants-predispose-to-a-syndromic-papillary-thyroid-cancer-subtype
#12
JOURNAL ARTICLE
Emily A DeBoy, Anna M Nicosia, Sandya Liyanarachchi, Sheila S Iyer, Manisha H Shah, Matthew D Ringel, Pamela Brock, Mary Armanios
Papillary thyroid cancer (PTC) is the most common endocrine malignancy. 10% to 15% of individuals show familial clustering with three or more affected members, but the factors underlying this risk are unknown. In a group of recently studied individuals with POT1 pathogenic variants and ultra-long telomere length, PTC was the second most common solid tumor. We tested whether variants in POT1 and four other telomere-maintenance genes associated with familial cancer underlie PTC susceptibility. Among 470 individuals, we identified pathogenic or likely pathogenic variants in three genes encoding telomere-binding proteins: POT1, TINF2, and ACD...
April 26, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38688278/managing-differential-performance-of-polygenic-risk-scores-across-groups-real-world-experience-of-the-emerge-network
#13
REVIEW
Anna C F Lewis, Rex L Chisholm, John J Connolly, Edward D Esplin, Joe Glessner, Adam Gordon, Robert C Green, Hakon Hakonarson, Margaret Harr, Ingrid A Holm, Gail P Jarvik, Beth Karlson, Eimear E Kenny, Leah Kottyan, Niall Lennon, Jodell E Linder, Yuan Luo, Lisa J Martin, Emma Perez, Megan J Puckelwartz, Laura J Rasmussen-Torvik, Maya Sabatello, Richard R Sharp, Jordan W Smoller, Rene Sterling, Shannon Terek, Wei-Qi Wei, Stephanie M Fullerton
The differential performance of polygenic risk scores (PRSs) by group is one of the major ethical barriers to their clinical use. It is also one of the main practical challenges for any implementation effort. The social repercussions of how people are grouped in PRS research must be considered in communications with research participants, including return of results. Here, we outline the decisions faced and choices made by a large multi-site clinical implementation study returning PRSs to diverse participants in handling this issue of differential performance...
April 18, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38642557/aspiring-toward-equitable-benefits-from-genomic-advances-to-individuals-of-ancestrally-diverse-backgrounds
#14
REVIEW
Ying Wang, Yixuan He, Yue Shi, David C Qian, Kathryn J Gray, Robert Winn, Alicia R Martin
Advancements in genomic technologies have shown remarkable promise for improving health trajectories. The Human Genome Project has catalyzed the integration of genomic tools into clinical practice, such as disease risk assessment, prenatal testing and reproductive genomics, cancer diagnostics and prognostication, and therapeutic decision making. Despite the promise of genomic technologies, their full potential remains untapped without including individuals of diverse ancestries and integrating social determinants of health (SDOHs)...
April 16, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38614076/toward-clinical-exomes-in-diagnostics-and-management-of-male-infertility
#15
JOURNAL ARTICLE
Kristiina Lillepea, Anna-Grete Juchnewitsch, Laura Kasak, Anu Valkna, Avirup Dutta, Kristjan Pomm, Olev Poolamets, Liina Nagirnaja, Erik Tamp, Eisa Mahyari, Vladimir Vihljajev, Stanislav Tjagur, Sofia Papadimitriou, Antoni Riera-Escamilla, Nassim Versbraegen, Ginevra Farnetani, Helen Castillo-Madeen, Mailis Sütt, Viljo Kübarsepp, Sven Tennisberg, Paul Korrovits, Csilla Krausz, Kenneth I Aston, Tom Lenaerts, Donald F Conrad, Margus Punab, Maris Laan
Infertility, affecting ∼10% of men, is predominantly caused by primary spermatogenic failure (SPGF). We screened likely pathogenic and pathogenic (LP/P) variants in 638 candidate genes for male infertility in 521 individuals presenting idiopathic SPGF and 323 normozoospermic men in the ESTAND cohort. Molecular diagnosis was reached for 64 men with SPGF (12%), with findings in 39 genes (6%). The yield did not differ significantly between the subgroups with azoospermia (20/185, 11%), oligozoospermia (18/181, 10%), and primary cryptorchidism with SPGF (26/155, 17%)...
April 12, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38653249/gene-specific-somatic-epigenetic-mosaicism-of-fdft1-underlies-a-non-hereditary-localized-form-of-porokeratosis
#16
JOURNAL ARTICLE
Sonoko Saito, Yuki Saito, Showbu Sato, Satomi Aoki, Harumi Fujita, Yoshihiro Ito, Noriko Ono, Takeru Funakoshi, Tomoko Kawai, Hisato Suzuki, Takashi Sasaki, Tomoyo Tanaka, Masukazu Inoie, Kenichiro Hata, Keisuke Kataoka, Kenjiro Kosaki, Masayuki Amagai, Kazuhiko Nakabayashi, Akiharu Kubo
Porokeratosis is a clonal keratinization disorder characterized by solitary, linearly arranged, or generally distributed multiple skin lesions. Previous studies showed that genetic alterations in MVK, PMVK, MVD, or FDPS-genes in the mevalonate pathway-cause hereditary porokeratosis, with skin lesions harboring germline and lesion-specific somatic variants on opposite alleles. Here, we identified non-hereditary porokeratosis associated with epigenetic silencing of FDFT1, another gene in the mevalonate pathway...
April 10, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38636509/genomic-answers-for-kids-toward-more-equitable-access-to-genomic-testing-for-rare-diseases-in-rural-populations
#17
REVIEW
Ana S A Cohen, Courtney D Berrios, Tricia N Zion, Cassandra M Barrett, Riley Moore, Emelia Boillat, Bradley Belden, Emily G Farrow, Isabelle Thiffault, Britton D Zuccarelli, Tomi Pastinen
Next-generation sequencing has revolutionized the speed of rare disease (RD) diagnoses. While clinical exome and genome sequencing represent an effective tool for many RD diagnoses, there is room to further improve the diagnostic odyssey of many RD patients. One recognizable intervention lies in increasing equitable access to genomic testing. Rural communities represent a significant portion of underserved and underrepresented individuals facing additional barriers to diagnosis and treatment. Primary care providers (PCPs) at local clinics, though sometimes suspicious of a potential benefit of genetic testing for their patients, have significant constraints in pursuing it themselves and rely on referrals to specialists...
April 10, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38626762/cag-repeat-mosaicism-is-gene-specific-in-spinocerebellar-ataxias
#18
JOURNAL ARTICLE
Radhia Kacher, François-Xavier Lejeune, Isabelle David, Susana Boluda, Giulia Coarelli, Sabrina Leclere-Turbant, Anna Heinzmann, Cecilia Marelli, Perrine Charles, Cyril Goizet, Nisha Kabir, Rania Hilab, Ludmila Jornea, Julie Six, Marc Dommergues, Anne-Laure Fauret, Alexis Brice, Sandrine Humbert, Alexandra Durr
Expanded CAG repeats in coding regions of different genes are the most common cause of dominantly inherited spinocerebellar ataxias (SCAs). These repeats are unstable through the germline, and larger repeats lead to earlier onset. We measured somatic expansion in blood samples collected from 30 SCA1, 50 SCA2, 74 SCA3, and 30 SCA7 individuals over a mean interval of 8.5 years, along with postmortem tissues and fetal tissues from SCA1, SCA3, and SCA7 individuals to examine somatic expansion at different stages of life...
April 9, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38614075/a-new-test-for-trait-mean-and-variance-detects-unreported-loci-for-blood-pressure-variation
#19
JOURNAL ARTICLE
Joseph H Breeyear, Brian S Mautz, Jacob M Keaton, Jacklyn N Hellwege, Eric S Torstenson, Jingjing Liang, Michael J Bray, Ayush Giri, Helen R Warren, Patricia B Munroe, Digna R Velez Edwards, Xiaofeng Zhu, Chun Li, Todd L Edwards
Variability in quantitative traits has clinical, ecological, and evolutionary significance. Most genetic variants identified for complex quantitative traits have only a detectable effect on the mean of trait. We have developed the mean-variance test (MVtest) to simultaneously model the mean and log-variance of a quantitative trait as functions of genotypes and covariates by using estimating equations. The advantages of MVtest include the facts that it can detect effect modification, that multiple testing can follow conventional thresholds, that it is robust to non-normal outcomes, and that association statistics can be meta-analyzed...
April 9, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38608674/a-regulatory-variant-impacting-tbx1-expression-contributes-to-basicranial-morphology-in-homo-sapiens
#20
JOURNAL ARTICLE
Noriko Funato, Arja Heliövaara, Cedric Boeckx
Changes in gene regulatory elements play critical roles in human phenotypic divergence. However, identifying the base-pair changes responsible for the distinctive morphology of Homo sapiens remains challenging. Here, we report a noncoding single-nucleotide polymorphism (SNP), rs41298798, as a potential causal variant contributing to the morphology of the skull base and vertebral structures found in Homo sapiens. Screening for differentially regulated genes between Homo sapiens and extinct relatives revealed 13 candidate genes associated with basicranial development, with TBX1, implicated in DiGeorge syndrome, playing a pivotal role...
April 5, 2024: American Journal of Human Genetics
journal
journal
23302
1
2
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.