LRRC23 deficiency causes male infertility with idiopathic asthenozoospermia by disrupting the assembly of radial spokes
This study provides strong preliminary evidence that LRRC23 defects are potential causative factors of AZS in humans, which expands our knowledge for improved genetic counseling and better reproductive recommendations for patients with AZS.PMID:37804054 | DOI:10.1111/cge.14433 (Source: Clinical Genetics)
Source: Clinical Genetics - October 7, 2023 Category: Genetics & Stem Cells Authors: Yuqian Li Qiang Zhang Qing Tan Xuan Sha Yang Gao Rong Hua Ping Zhou Zhaolian Wei Xiaojin He Yunxia Cao Tao Li Huan Wu Source Type: research
Sequence variants in DLX5, HOXD13 and 445 kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families
Clin Genet. 2023 Sep 30. doi: 10.1111/cge.14430. Online ahead of print.NO ABSTRACTPMID:37776184 | DOI:10.1111/cge.14430 (Source: Clinical Genetics)
Source: Clinical Genetics - September 30, 2023 Category: Genetics & Stem Cells Authors: None Abdullah Shabir Hussain Weizhen Ji Hammal Khan Emily K Mis Rabiha Mushtaq Mirub Chodhary Muhammad Hassan Raza Abid Jan Imran Ullah Mustafa K Khokha Saquib A Lakhani Wasim Ahmad Source Type: research
Sequence variants in DLX5, HOXD13 and 445 kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families
Clin Genet. 2023 Sep 30. doi: 10.1111/cge.14430. Online ahead of print.NO ABSTRACTPMID:37776184 | DOI:10.1111/cge.14430 (Source: Clinical Genetics)
Source: Clinical Genetics - September 30, 2023 Category: Genetics & Stem Cells Authors: None Abdullah Shabir Hussain Weizhen Ji Hammal Khan Emily K Mis Rabiha Mushtaq Mirub Chodhary Muhammad Hassan Raza Abid Jan Imran Ullah Mustafa K Khokha Saquib A Lakhani Wasim Ahmad Source Type: research
Sequence variants in DLX5, HOXD13 and 445 kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families
Clin Genet. 2023 Sep 30. doi: 10.1111/cge.14430. Online ahead of print.NO ABSTRACTPMID:37776184 | DOI:10.1111/cge.14430 (Source: Clinical Genetics)
Source: Clinical Genetics - September 30, 2023 Category: Genetics & Stem Cells Authors: None Abdullah Shabir Hussain Weizhen Ji Hammal Khan Emily K Mis Rabiha Mushtaq Mirub Chodhary Muhammad Hassan Raza Abid Jan Imran Ullah Mustafa K Khokha Saquib A Lakhani Wasim Ahmad Source Type: research
Sequence variants in DLX5, HOXD13 and 445 kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families
Clin Genet. 2023 Sep 30. doi: 10.1111/cge.14430. Online ahead of print.NO ABSTRACTPMID:37776184 | DOI:10.1111/cge.14430 (Source: Clinical Genetics)
Source: Clinical Genetics - September 30, 2023 Category: Genetics & Stem Cells Authors: None Abdullah Shabir Hussain Weizhen Ji Hammal Khan Emily K Mis Rabiha Mushtaq Mirub Chodhary Muhammad Hassan Raza Abid Jan Imran Ullah Mustafa K Khokha Saquib A Lakhani Wasim Ahmad Source Type: research
Sequence variants in DLX5, HOXD13 and 445 kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families
Clin Genet. 2023 Sep 30. doi: 10.1111/cge.14430. Online ahead of print.NO ABSTRACTPMID:37776184 | DOI:10.1111/cge.14430 (Source: Clinical Genetics)
Source: Clinical Genetics - September 30, 2023 Category: Genetics & Stem Cells Authors: None Abdullah Shabir Hussain Weizhen Ji Hammal Khan Emily K Mis Rabiha Mushtaq Mirub Chodhary Muhammad Hassan Raza Abid Jan Imran Ullah Mustafa K Khokha Saquib A Lakhani Wasim Ahmad Source Type: research
Sequence variants in DLX5, HOXD13 and 445 kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families
Clin Genet. 2023 Sep 30. doi: 10.1111/cge.14430. Online ahead of print.NO ABSTRACTPMID:37776184 | DOI:10.1111/cge.14430 (Source: Clinical Genetics)
Source: Clinical Genetics - September 30, 2023 Category: Genetics & Stem Cells Authors: None Abdullah Shabir Hussain Weizhen Ji Hammal Khan Emily K Mis Rabiha Mushtaq Mirub Chodhary Muhammad Hassan Raza Abid Jan Imran Ullah Mustafa K Khokha Saquib A Lakhani Wasim Ahmad Source Type: research
Novel WEE2 homozygous mutations c.1346C & gt;T and c.949A & gt;T identified in primary infertile women due to unexplained fertilization failure
Clin Genet. 2023 Sep 29. doi: 10.1111/cge.14429. Online ahead of print.ABSTRACTThe occurrence of unexplained fertilization failure can have profound psychological and financial consequences for couples struggling with infertility, and its pathogenesis remains unclear. Increasing evidence highlights genetic basis of unexplained fertilization failure occurrence. Here, we identified one novel homozygous nonsense mutation (c.949A>T), one novel homozygous missense mutation (c.1346C>T), and three reported homozygous mutations (c.585G>C, c.1006_1007insTA, c.1221G>A) in six unrelated probands, showing similar manifesta...
Source: Clinical Genetics - September 29, 2023 Category: Genetics & Stem Cells Authors: Haiyan Guo Haibo Wu Zheng Yan Mingru Yin Ling Wu Bin Li Source Type: research
Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility
In this study, we identified a homozygous missense mutation (c.536G>A, p.R179Q) and a compound heterozygous mutation (c.793C>T, p.R265W; c.1201C>T, p.Q401*) in PABPC1L in two unrelated infertile females characterized by recurrent oocyte maturation abnormalities and early embryonic arrest. These variants resulted in nonfunctional PABPC1L protein and were associated with impaired chromatin configuration and transcriptional silencing in GV oocytes. Moreover, the binding capacity of mutant PABPC1L to mRNAs related to oocyte maturation and early embryonic development was decreased significantly. Our findings revealed n...
Source: Clinical Genetics - September 19, 2023 Category: Genetics & Stem Cells Authors: Xiang Wang Ruixi Zhou Xiaowei Lu Siyu Dai Mohan Liu Chuan Jiang Yanting Yang Ying Shen Yan Wang Hanmin Liu Source Type: research
Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility
In this study, we identified a homozygous missense mutation (c.536G>A, p.R179Q) and a compound heterozygous mutation (c.793C>T, p.R265W; c.1201C>T, p.Q401*) in PABPC1L in two unrelated infertile females characterized by recurrent oocyte maturation abnormalities and early embryonic arrest. These variants resulted in nonfunctional PABPC1L protein and were associated with impaired chromatin configuration and transcriptional silencing in GV oocytes. Moreover, the binding capacity of mutant PABPC1L to mRNAs related to oocyte maturation and early embryonic development was decreased significantly. Our findings revealed n...
Source: Clinical Genetics - September 19, 2023 Category: Genetics & Stem Cells Authors: Xiang Wang Ruixi Zhou Xiaowei Lu Siyu Dai Mohan Liu Chuan Jiang Yanting Yang Ying Shen Yan Wang Hanmin Liu Source Type: research
Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility
In this study, we identified a homozygous missense mutation (c.536G>A, p.R179Q) and a compound heterozygous mutation (c.793C>T, p.R265W; c.1201C>T, p.Q401*) in PABPC1L in two unrelated infertile females characterized by recurrent oocyte maturation abnormalities and early embryonic arrest. These variants resulted in nonfunctional PABPC1L protein and were associated with impaired chromatin configuration and transcriptional silencing in GV oocytes. Moreover, the binding capacity of mutant PABPC1L to mRNAs related to oocyte maturation and early embryonic development was decreased significantly. Our findings revealed n...
Source: Clinical Genetics - September 19, 2023 Category: Genetics & Stem Cells Authors: Xiang Wang Ruixi Zhou Xiaowei Lu Siyu Dai Mohan Liu Chuan Jiang Yanting Yang Ying Shen Yan Wang Hanmin Liu Source Type: research
Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility
In this study, we identified a homozygous missense mutation (c.536G>A, p.R179Q) and a compound heterozygous mutation (c.793C>T, p.R265W; c.1201C>T, p.Q401*) in PABPC1L in two unrelated infertile females characterized by recurrent oocyte maturation abnormalities and early embryonic arrest. These variants resulted in nonfunctional PABPC1L protein and were associated with impaired chromatin configuration and transcriptional silencing in GV oocytes. Moreover, the binding capacity of mutant PABPC1L to mRNAs related to oocyte maturation and early embryonic development was decreased significantly. Our findings revealed n...
Source: Clinical Genetics - September 19, 2023 Category: Genetics & Stem Cells Authors: Xiang Wang Ruixi Zhou Xiaowei Lu Siyu Dai Mohan Liu Chuan Jiang Yanting Yang Ying Shen Yan Wang Hanmin Liu Source Type: research
Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility
In this study, we identified a homozygous missense mutation (c.536G>A, p.R179Q) and a compound heterozygous mutation (c.793C>T, p.R265W; c.1201C>T, p.Q401*) in PABPC1L in two unrelated infertile females characterized by recurrent oocyte maturation abnormalities and early embryonic arrest. These variants resulted in nonfunctional PABPC1L protein and were associated with impaired chromatin configuration and transcriptional silencing in GV oocytes. Moreover, the binding capacity of mutant PABPC1L to mRNAs related to oocyte maturation and early embryonic development was decreased significantly. Our findings revealed n...
Source: Clinical Genetics - September 19, 2023 Category: Genetics & Stem Cells Authors: Xiang Wang Ruixi Zhou Xiaowei Lu Siyu Dai Mohan Liu Chuan Jiang Yanting Yang Ying Shen Yan Wang Hanmin Liu Source Type: research
Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility
In this study, we identified a homozygous missense mutation (c.536G>A, p.R179Q) and a compound heterozygous mutation (c.793C>T, p.R265W; c.1201C>T, p.Q401*) in PABPC1L in two unrelated infertile females characterized by recurrent oocyte maturation abnormalities and early embryonic arrest. These variants resulted in nonfunctional PABPC1L protein and were associated with impaired chromatin configuration and transcriptional silencing in GV oocytes. Moreover, the binding capacity of mutant PABPC1L to mRNAs related to oocyte maturation and early embryonic development was decreased significantly. Our findings revealed n...
Source: Clinical Genetics - September 19, 2023 Category: Genetics & Stem Cells Authors: Xiang Wang Ruixi Zhou Xiaowei Lu Siyu Dai Mohan Liu Chuan Jiang Yanting Yang Ying Shen Yan Wang Hanmin Liu Source Type: research
Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility
In this study, we identified a homozygous missense mutation (c.536G>A, p.R179Q) and a compound heterozygous mutation (c.793C>T, p.R265W; c.1201C>T, p.Q401*) in PABPC1L in two unrelated infertile females characterized by recurrent oocyte maturation abnormalities and early embryonic arrest. These variants resulted in nonfunctional PABPC1L protein and were associated with impaired chromatin configuration and transcriptional silencing in GV oocytes. Moreover, the binding capacity of mutant PABPC1L to mRNAs related to oocyte maturation and early embryonic development was decreased significantly. Our findings revealed n...
Source: Clinical Genetics - September 19, 2023 Category: Genetics & Stem Cells Authors: Xiang Wang Ruixi Zhou Xiaowei Lu Siyu Dai Mohan Liu Chuan Jiang Yanting Yang Ying Shen Yan Wang Hanmin Liu Source Type: research
