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Subject : genes

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Academic Journal

A rare deleterious missense mutation in the AXIN2 gene in Chinese women with polycystic ovary syndrome.

Authors : Zhang, Ying¹ (AUTHOR); Chen, Yu^1,2 (AUTHOR); Liu, Fa-Ying^1,2 (AUTHOR)

Source: Gynecological Endocrinology. Dec2025, Vol. 41 Issue 1, p1-6. 6p.

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Academic Journal

Mutation screening of γ-crystallin gene in congenital cataract patients from North India.

Authors : Fatima, Aal E¹ (AUTHOR); Kumar, Rahul¹ (AUTHOR); Afzal, Mohammad¹ (AUTHOR)

Source: Indian Journal of Ophthalmology. 2026, Vol. 74 Issue 2, p196-202. 7p.

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Academic Journal

Unilateral craniosynostosis associated with ZIC1 gene mutation: a case report.

Authors : Alsharef, Fahad K¹ (AUTHOR); Alraddadi, Khulood K² (AUTHOR); Aljared, Tariq³ (AUTHOR)

Source: Journal of Surgical Case Reports. Jan2026, Vol. 2026 Issue 1, p1-4. 4p.

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Academic Journal

A Challenging Case of Hypercalcemia Caused by a Novel Homozygous Variant Missense Mutation in the CYP24A1 Gene.

Authors : Ahsan, Tasnim¹ (AUTHOR); Yahya, Muhammad¹ (AUTHOR); Dilawar, Heer¹ (AUTHOR)

Source: JCEM Case Reports. Jan2026, Vol. 4 Issue 1, p1-4. 4p.

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Academic Journal

Clinical Benefits of KRAS/GNAS Gene Mutation Analysis in Addition to Morphology and Conventional Cyst Fluid Testing in Differentiating Pancreatic Cysts.

Authors : Gyimesi, György^1,2 (AUTHOR); Keczer, Bánk^2,3 (AUTHOR); Rein, Péter³ (AUTHOR)

Source: Journal of Clinical Medicine. Dec2025, Vol. 14 Issue 24, p8671. 11p.

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Academic Journal

A mutation in the SLC45A2 gene causing the cremello phenotype in a Turkish wild horse.

Authors : GÜCÜYENER HACAN, Özlem¹ ; ÇELİKELOĞLU, Koray¹; ERDOĞAN, Metin²

Source: Veterinary Journal of Ankara University / Ankara Universitesi Veteriner Fakultesi Dergisi. 2025, Vol. 72 Issue 4, p457-462. 6p.

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Academic Journal

不同类型汗孔角化症8例基因突变分析.

Authors : 史含¹; 王文慧¹; 李婷婷¹

Source: Chinese Journal of Dermatovenereology. Oct2025, Vol. 39 Issue 10, p1138-1143. 8p.

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Academic Journal

FBXW7 Gene Mutation and Expression in Colorectal Cancer (CRC): A Systematic Review from Molecular Mechanisms to Clinical Translation.

Authors : Arrivi, Giulia¹ (AUTHOR); Gentile, Gabriella^2,3 (AUTHOR); Roberto, Michela^3,4 (AUTHOR)

Source: International Journal of Molecular Sciences. Dec2025, Vol. 26 Issue 23, p11318. 27p.

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Academic Journal

A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene.

Authors : E., Cailing¹ (AUTHOR); Ahmed, Maaz¹ (AUTHOR); Wang, Yu¹ (AUTHOR)

Source: Clinical Case Reports. Aug2025, Vol. 13 Issue 8, p1-5. 5p.

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Academic Journal

Identification of a Novel Homozygous SLC34A1 Missense Mutation and a Heterozygous SLC34A3 Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia.

Authors : Mura-Escorche, Glorián¹ (AUTHOR); García-Suarez, Leire C.² (AUTHOR); Lebredo-Álvarez, Isis³ (AUTHOR)

Source: International Journal of Molecular Sciences. Sep2025, Vol. 26 Issue 17, p8541. 15p.

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نتائج البحث

فلترة النتائج

A rare deleterious missense mutation in the AXIN2 gene in Chinese women with polycystic ovary syndrome.

Mutation screening of γ-crystallin gene in congenital cataract patients from North India.

Unilateral craniosynostosis associated with ZIC1 gene mutation: a case report.

A Challenging Case of Hypercalcemia Caused by a Novel Homozygous Variant Missense Mutation in the CYP24A1 Gene.

Clinical Benefits of KRAS/GNAS Gene Mutation Analysis in Addition to Morphology and Conventional Cyst Fluid Testing in Differentiating Pancreatic Cysts.

A mutation in the SLC45A2 gene causing the cremello phenotype in a Turkish wild horse.

不同类型汗孔角化症8例基因突变分析.

FBXW7 Gene Mutation and Expression in Colorectal Cancer (CRC): A Systematic Review from Molecular Mechanisms to Clinical Translation.

A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene.

Identification of a Novel Homozygous SLC34A1 Missense Mutation and a Heterozygous SLC34A3 Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia.

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